{"id":147404,"date":"2025-05-31T17:57:11","date_gmt":"2025-05-31T17:57:11","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/147404\/"},"modified":"2025-05-31T17:57:11","modified_gmt":"2025-05-31T17:57:11","slug":"mybpc3-c-2309-2ag-exploring-a-founder-variant-in-italian-hypertrophic-cardiomyopathy-patients","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/147404\/","title":{"rendered":"MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients"},"content":{"rendered":"<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"1.\">\n<p class=\"c-article-references__text\" id=\"ref-CR1\">Carrier L. Targeting the population for gene therapy with MYBPC3. J Mol Cell Cardiol. 2021;150:101\u20138.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.yjmcc.2020.10.003\" data-track-item_id=\"10.1016\/j.yjmcc.2020.10.003\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.yjmcc.2020.10.003\" aria-label=\"Article reference 1\" data-doi=\"10.1016\/j.yjmcc.2020.10.003\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXit12hu77P\" aria-label=\"CAS reference 1\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33049255\" aria-label=\"PubMed reference 1\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 1\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Targeting%20the%20population%20for%20gene%20therapy%20with%20MYBPC3&amp;journal=J%20Mol%20Cell%20Cardiol&amp;doi=10.1016%2Fj.yjmcc.2020.10.003&amp;volume=150&amp;pages=101-8&amp;publication_year=2021&amp;author=Carrier%2CL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"2.\">\n<p class=\"c-article-references__text\" id=\"ref-CR2\">Cirino AL, Harris SL, Murad AM, Hansen B, Malinowski J, Natoli JL, et al. The uptake and utility of genetic testing and genetic counseling for hypertrophic cardiomyopathy\u2014A systematic review and meta-analysis. J Genet Couns. 2022;31:1290\u2013305.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1002\/jgc4.1604\" data-track-item_id=\"10.1002\/jgc4.1604\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1002%2Fjgc4.1604\" aria-label=\"Article reference 2\" data-doi=\"10.1002\/jgc4.1604\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38XjtVyls7rL\" aria-label=\"CAS reference 2\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35799446\" aria-label=\"PubMed reference 2\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 2\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20uptake%20and%20utility%20of%20genetic%20testing%20and%20genetic%20counseling%20for%20hypertrophic%20cardiomyopathy%E2%80%94A%20systematic%20review%20and%20meta-analysis&amp;journal=J%20Genet%20Couns&amp;doi=10.1002%2Fjgc4.1604&amp;volume=31&amp;pages=1290-305&amp;publication_year=2022&amp;author=Cirino%2CAL&amp;author=Harris%2CSL&amp;author=Murad%2CAM&amp;author=Hansen%2CB&amp;author=Malinowski%2CJ&amp;author=Natoli%2CJL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"3.\">\n<p class=\"c-article-references__text\" id=\"ref-CR3\">Ariga R, Tunnicliffe EM, Manohar SG, Mahmod M, Raman B, Piechnik SK, et al. Identification of Myocardial Disarray in Patients With Hypertrophic Cardiomyopathy and Ventricular Arrhythmias. J Am Coll Cardiol. 2019;73:2493\u2013502.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.jacc.2019.02.065\" data-track-item_id=\"10.1016\/j.jacc.2019.02.065\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.jacc.2019.02.065\" aria-label=\"Article reference 3\" data-doi=\"10.1016\/j.jacc.2019.02.065\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=31118142\" aria-label=\"PubMed reference 3\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC6548973\" aria-label=\"PubMed Central reference 3\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 3\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Identification%20of%20Myocardial%20Disarray%20in%20Patients%20With%20Hypertrophic%20Cardiomyopathy%20and%20Ventricular%20Arrhythmias&amp;journal=J%20Am%20Coll%20Cardiol&amp;doi=10.1016%2Fj.jacc.2019.02.065&amp;volume=73&amp;pages=2493-502&amp;publication_year=2019&amp;author=Ariga%2CR&amp;author=Tunnicliffe%2CEM&amp;author=Manohar%2CSG&amp;author=Mahmod%2CM&amp;author=Raman%2CB&amp;author=Piechnik%2CSK\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"4.\">\n<p class=\"c-article-references__text\" id=\"ref-CR4\">Marian AJ, Asatryan B, Wehrens XHT. Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies. Cardiovasc Res. 2020;116:1600\u201319.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1093\/cvr\/cvaa116\" data-track-item_id=\"10.1093\/cvr\/cvaa116\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1093%2Fcvr%2Fcvaa116\" aria-label=\"Article reference 4\" data-doi=\"10.1093\/cvr\/cvaa116\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXitlKnsLnM\" aria-label=\"CAS reference 4\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32348453\" aria-label=\"PubMed reference 4\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7341170\" aria-label=\"PubMed Central reference 4\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 4\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Genetic%20basis%20and%20molecular%20biology%20of%20cardiac%20arrhythmias%20in%20cardiomyopathies&amp;journal=Cardiovasc%20Res&amp;doi=10.1093%2Fcvr%2Fcvaa116&amp;volume=116&amp;pages=1600-19&amp;publication_year=2020&amp;author=Marian%2CAJ&amp;author=Asatryan%2CB&amp;author=Wehrens%2CXHT\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"5.\">\n<p class=\"c-article-references__text\" id=\"ref-CR5\">Tudurachi BS, Z\u0103voi A, Leonte A, \u021a\u0103poi L, Ureche C, B\u00eergoan SG, et al. An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy. Int J Mol Sci. 2023;24:10510.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.3390\/ijms241310510\" data-track-item_id=\"10.3390\/ijms241310510\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.3390%2Fijms241310510\" aria-label=\"Article reference 5\" data-doi=\"10.3390\/ijms241310510\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXhsFSksL7E\" aria-label=\"CAS reference 5\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37445689\" aria-label=\"PubMed reference 5\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10341819\" aria-label=\"PubMed Central reference 5\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 5\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=An%20Update%20on%20MYBPC3%20Gene%20Mutation%20in%20Hypertrophic%20Cardiomyopathy&amp;journal=Int%20J%20Mol%20Sci&amp;doi=10.3390%2Fijms241310510&amp;volume=24&amp;publication_year=2023&amp;author=Tudurachi%2CBS&amp;author=Z%C4%83voi%2CA&amp;author=Leonte%2CA&amp;author=%C8%9A%C4%83poi%2CL&amp;author=Ureche%2CC&amp;author=B%C3%AErgoan%2CSG\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"6.\">\n<p class=\"c-article-references__text\" id=\"ref-CR6\">Schlossarek S, Mearini G, Carrier L. Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: Mechanisms and therapeutic opportunities. J Mol Cell Cardiol. 2011;50:613\u201320.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.yjmcc.2011.01.014\" data-track-item_id=\"10.1016\/j.yjmcc.2011.01.014\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.yjmcc.2011.01.014\" aria-label=\"Article reference 6\" data-doi=\"10.1016\/j.yjmcc.2011.01.014\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC3MXjsFWgt7s%3D\" aria-label=\"CAS reference 6\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=21291890\" aria-label=\"PubMed reference 6\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 6\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Cardiac%20myosin-binding%20protein%20C%20in%20hypertrophic%20cardiomyopathy%3A%20Mechanisms%20and%20therapeutic%20opportunities&amp;journal=J%20Mol%20Cell%20Cardiol&amp;doi=10.1016%2Fj.yjmcc.2011.01.014&amp;volume=50&amp;pages=613-20&amp;publication_year=2011&amp;author=Schlossarek%2CS&amp;author=Mearini%2CG&amp;author=Carrier%2CL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"7.\">\n<p class=\"c-article-references__text\" id=\"ref-CR7\">Alders M. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J. 2003;24:1848\u201353.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/S0195-668X(03)00466-4\" data-track-item_id=\"10.1016\/S0195-668X(03)00466-4\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2FS0195-668X%2803%2900466-4\" aria-label=\"Article reference 7\" data-doi=\"10.1016\/S0195-668X(03)00466-4\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BD3sXotVCit70%3D\" aria-label=\"CAS reference 7\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=14563344\" aria-label=\"PubMed reference 7\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 7\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%202373insG%20mutation%20in%20the%20MYBPC3%20gene%20is%20a%20founder%20mutation%2C%20which%20accounts%20for%20nearly%20one-fourth%20of%20the%20HCM%20cases%20in%20the%20Netherlands&amp;journal=Eur%20Heart%20J&amp;doi=10.1016%2FS0195-668X%2803%2900466-4&amp;volume=24&amp;pages=1848-53&amp;publication_year=2003&amp;author=Alders%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"8.\">\n<p class=\"c-article-references__text\" id=\"ref-CR8\">Helms AS, Thompson AD, Glazier AA, Hafeez N, Kabani S, Rodriguez J, et al. Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy. Circ Genom Precis Med. 2020;13:396\u2013405.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1161\/CIRCGEN.120.002929\" data-track-item_id=\"10.1161\/CIRCGEN.120.002929\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1161%2FCIRCGEN.120.002929\" aria-label=\"Article reference 8\" data-doi=\"10.1161\/CIRCGEN.120.002929\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXisVyju77L\" aria-label=\"CAS reference 8\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32841044\" aria-label=\"PubMed reference 8\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7676622\" aria-label=\"PubMed Central reference 8\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 8\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Spatial%20and%20Functional%20Distribution%20of%20MYBPC3%20Pathogenic%20Variants%20and%20Clinical%20Outcomes%20in%20Patients%20With%20Hypertrophic%20Cardiomyopathy&amp;journal=Circ%20Genom%20Precis%20Med&amp;doi=10.1161%2FCIRCGEN.120.002929&amp;volume=13&amp;pages=396-405&amp;publication_year=2020&amp;author=Helms%2CAS&amp;author=Thompson%2CAD&amp;author=Glazier%2CAA&amp;author=Hafeez%2CN&amp;author=Kabani%2CS&amp;author=Rodriguez%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"9.\">\n<p class=\"c-article-references__text\" id=\"ref-CR9\">Marian AJ, Braunwald E. Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. Circ Res. 2017;121:749\u201370.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1161\/CIRCRESAHA.117.311059\" data-track-item_id=\"10.1161\/CIRCRESAHA.117.311059\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1161%2FCIRCRESAHA.117.311059\" aria-label=\"Article reference 9\" data-doi=\"10.1161\/CIRCRESAHA.117.311059\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2sXhsVyrsrvP\" aria-label=\"CAS reference 9\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=28912181\" aria-label=\"PubMed reference 9\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5654557\" aria-label=\"PubMed Central reference 9\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 9\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Hypertrophic%20Cardiomyopathy%3A%20Genetics%2C%20Pathogenesis%2C%20Clinical%20Manifestations%2C%20Diagnosis%2C%20and%20Therapy&amp;journal=Circ%20Res&amp;doi=10.1161%2FCIRCRESAHA.117.311059&amp;volume=121&amp;pages=749-70&amp;publication_year=2017&amp;author=Marian%2CAJ&amp;author=Braunwald%2CE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"10.\">\n<p class=\"c-article-references__text\" id=\"ref-CR10\">Ribeiro M, Furtado M, Martins S, Carvalho T, Carmo-Fonseca M. RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy. Int J Mol Sci. 2020;21:1329.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.3390\/ijms21041329\" data-track-item_id=\"10.3390\/ijms21041329\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.3390%2Fijms21041329\" aria-label=\"Article reference 10\" data-doi=\"10.3390\/ijms21041329\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3cXhslGmur%2FM\" aria-label=\"CAS reference 10\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32079122\" aria-label=\"PubMed reference 10\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7072897\" aria-label=\"PubMed Central reference 10\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 10\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=RNA%20Splicing%20Defects%20in%20Hypertrophic%20Cardiomyopathy%3A%20Implications%20for%20Diagnosis%20and%20Therapy&amp;journal=Int%20J%20Mol%20Sci&amp;doi=10.3390%2Fijms21041329&amp;volume=21&amp;publication_year=2020&amp;author=Ribeiro%2CM&amp;author=Furtado%2CM&amp;author=Martins%2CS&amp;author=Carvalho%2CT&amp;author=Carmo-Fonseca%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"11.\">\n<p class=\"c-article-references__text\" id=\"ref-CR11\">Ito K, Patel PN, Gorham JM, McDonough B, DePalma SR, Adler EE, et al. Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing. Proc Natl Acad Sci. 2017;114:7689\u201394.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1073\/pnas.1707741114\" data-track-item_id=\"10.1073\/pnas.1707741114\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1073%2Fpnas.1707741114\" aria-label=\"Article reference 11\" data-doi=\"10.1073\/pnas.1707741114\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2sXhtFanu73P\" aria-label=\"CAS reference 11\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=28679633\" aria-label=\"PubMed reference 11\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5528995\" aria-label=\"PubMed Central reference 11\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 11\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Identification%20of%20pathogenic%20gene%20mutations%20in%20LMNA%20and%20MYBPC3%20that%20alter%20RNA%20splicing&amp;journal=Proc%20Natl%20Acad%20Sci&amp;doi=10.1073%2Fpnas.1707741114&amp;volume=114&amp;pages=7689-94&amp;publication_year=2017&amp;author=Ito%2CK&amp;author=Patel%2CPN&amp;author=Gorham%2CJM&amp;author=McDonough%2CB&amp;author=DePalma%2CSR&amp;author=Adler%2CEE\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"12.\">\n<p class=\"c-article-references__text\" id=\"ref-CR12\">Frank-Hansen R, Page SP, Syrris P, McKenna WJ, Christiansen M, Andersen PS. Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations. Eur J Hum Genet. 2008;16:1062\u20139.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/ejhg.2008.52\" data-track-item_id=\"10.1038\/ejhg.2008.52\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fejhg.2008.52\" aria-label=\"Article reference 12\" data-doi=\"10.1038\/ejhg.2008.52\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BD1cXhtVWnsbrF\" aria-label=\"CAS reference 12\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=18337725\" aria-label=\"PubMed reference 12\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 12\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Micro-exons%20of%20the%20cardiac%20myosin%20binding%20protein%20C%20gene%3A%20flanking%20introns%20contain%20a%20disproportionately%20large%20number%20of%20hypertrophic%20cardiomyopathy%20mutations&amp;journal=Eur%20J%20Hum%20Genet&amp;doi=10.1038%2Fejhg.2008.52&amp;volume=16&amp;pages=1062-9&amp;publication_year=2008&amp;author=Frank-Hansen%2CR&amp;author=Page%2CSP&amp;author=Syrris%2CP&amp;author=McKenna%2CWJ&amp;author=Christiansen%2CM&amp;author=Andersen%2CPS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"13.\">\n<p class=\"c-article-references__text\" id=\"ref-CR13\">Torrado M, Maneiro E, Lamounier Junior A, Fern\u00e1ndez-Burriel M, S\u00e1nchez Giralt S, Mart\u00ednez-Carapeto A, et al. Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree. Sci Rep. 2022;12:7284.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41598-022-11159-y\" data-track-item_id=\"10.1038\/s41598-022-11159-y\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41598-022-11159-y\" aria-label=\"Article reference 13\" data-doi=\"10.1038\/s41598-022-11159-y\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB38Xht1SntbfI\" aria-label=\"CAS reference 13\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=35508642\" aria-label=\"PubMed reference 13\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9068804\" aria-label=\"PubMed Central reference 13\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 13\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Identification%20of%20an%20elusive%20spliceogenic%20MYBPC3%20variant%20in%20an%20otherwise%20genotype-negative%20hypertrophic%20cardiomyopathy%20pedigree&amp;journal=Sci%20Rep&amp;doi=10.1038%2Fs41598-022-11159-y&amp;volume=12&amp;publication_year=2022&amp;author=Torrado%2CM&amp;author=Maneiro%2CE&amp;author=Lamounier%20Junior%2CA&amp;author=Fern%C3%A1ndez-Burriel%2CM&amp;author=S%C3%A1nchez%20Giralt%2CS&amp;author=Mart%C3%ADnez-Carapeto%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"14.\">\n<p class=\"c-article-references__text\" id=\"ref-CR14\">Caroselli S, Fabiani M, Micolonghi C, Savio C, Tini G, Musumeci B, et al. Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic MYBPC3 Variants in an Italian Cohort. Ann Lab Med. 2025;45:96\u2013100.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.3343\/alm.2024.0201\" data-track-item_id=\"10.3343\/alm.2024.0201\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.3343%2Falm.2024.0201\" aria-label=\"Article reference 14\" data-doi=\"10.3343\/alm.2024.0201\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2MXhsVKls74%3D\" aria-label=\"CAS reference 14\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39355877\" aria-label=\"PubMed reference 14\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 14\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Reanalysis%20of%20Next-generation%20Sequencing%20Data%20in%20Patients%20With%20Hypertrophic%20Cardiomyopathy%3A%20Contribution%20of%20Spliceogenic%20MYBPC3%20Variants%20in%20an%20Italian%20Cohort&amp;journal=Ann%20Lab%20Med&amp;doi=10.3343%2Falm.2024.0201&amp;volume=45&amp;pages=96-100&amp;publication_year=2025&amp;author=Caroselli%2CS&amp;author=Fabiani%2CM&amp;author=Micolonghi%2CC&amp;author=Savio%2CC&amp;author=Tini%2CG&amp;author=Musumeci%2CB\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"15.\">\n<p class=\"c-article-references__text\" id=\"ref-CR15\">Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, et al. A molecular screening strategy based on \u03b2-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy. J Cardiovasc Med. 2006;7:601\u20137.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.2459\/01.JCM.0000237908.26377.d6\" data-track-item_id=\"10.2459\/01.JCM.0000237908.26377.d6\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.2459%2F01.JCM.0000237908.26377.d6\" aria-label=\"Article reference 15\" data-doi=\"10.2459\/01.JCM.0000237908.26377.d6\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 15\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20molecular%20screening%20strategy%20based%20on%20%CE%B2-myosin%20heavy%20chain%2C%20cardiac%20myosin%20binding%20protein%20C%20and%20troponin%20T%20genes%20in%20Italian%20patients%20with%20hypertrophic%20cardiomyopathy&amp;journal=J%20Cardiovasc%20Med&amp;doi=10.2459%2F01.JCM.0000237908.26377.d6&amp;volume=7&amp;pages=601-7&amp;publication_year=2006&amp;author=Girolami%2CF&amp;author=Olivotto%2CI&amp;author=Passerini%2CI&amp;author=Zachara%2CE&amp;author=Nistri%2CS&amp;author=Re%2CF\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"16.\">\n<p class=\"c-article-references__text\" id=\"ref-CR16\">Calore C, De Bortoli M, Romualdi C, Lorenzon A, Angelini A, Basso C, et al. A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life. J Med Genet. 2015;52:338\u201347.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1136\/jmedgenet-2014-102923\" data-track-item_id=\"10.1136\/jmedgenet-2014-102923\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1136%2Fjmedgenet-2014-102923\" aria-label=\"Article reference 16\" data-doi=\"10.1136\/jmedgenet-2014-102923\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2MXhtFymtrvP\" aria-label=\"CAS reference 16\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=25740977\" aria-label=\"PubMed reference 16\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 16\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20founder%20MYBPC3%20mutation%20results%20in%20HCM%20with%20a%20high%20risk%20of%20sudden%20death%20after%20the%20fourth%20decade%20of%20life&amp;journal=J%20Med%20Genet&amp;doi=10.1136%2Fjmedgenet-2014-102923&amp;volume=52&amp;pages=338-47&amp;publication_year=2015&amp;author=Calore%2CC&amp;author=Bortoli%2CM&amp;author=Romualdi%2CC&amp;author=Lorenzon%2CA&amp;author=Angelini%2CA&amp;author=Basso%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"17.\">\n<p class=\"c-article-references__text\" id=\"ref-CR17\">Vodnjov N, Maver A, Teran N, Peterlin B, Topli\u0161ek J, Writzl K. Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort Study. J Cardiovasc Transl Res [Internet]. 2024 Aug [cited 2024 Dec 12]; Available from: <a href=\"https:\/\/link.springer.com\/10.1007\/s12265-024-10551-5\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"https:\/\/link.springer.com\/10.1007\/s12265-024-10551-5\" target=\"_blank\" rel=\"noopener\">https:\/\/link.springer.com\/10.1007\/s12265-024-10551-5<\/a>.<\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"18.\">\n<p class=\"c-article-references__text\" id=\"ref-CR18\">Adalsteinsdottir B, Burke M, Maron BJ, Danielsen R, Lopez B, Diez J, et al. Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers. Open Heart. 2020;7:e001220.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1136\/openhrt-2019-001220\" data-track-item_id=\"10.1136\/openhrt-2019-001220\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1136%2Fopenhrt-2019-001220\" aria-label=\"Article reference 18\" data-doi=\"10.1136\/openhrt-2019-001220\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=32341788\" aria-label=\"PubMed reference 18\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7174027\" aria-label=\"PubMed Central reference 18\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 18\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Hypertrophic%20cardiomyopathy%20in%20myosin-binding%20protein%20C%20%28MYBPC3%29%20Icelandic%20founder%20mutation%20carriers&amp;journal=Open%20Heart&amp;doi=10.1136%2Fopenhrt-2019-001220&amp;volume=7&amp;publication_year=2020&amp;author=Adalsteinsdottir%2CB&amp;author=Burke%2CM&amp;author=Maron%2CBJ&amp;author=Danielsen%2CR&amp;author=Lopez%2CB&amp;author=Diez%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"19.\">\n<p class=\"c-article-references__text\" id=\"ref-CR19\">Redin C, Pavlidou DC, Bhuiyan Z, Porretta AP, Monney P, Bedoni N, et al. The \u00abAmish\u00bb NM_000256.3:c.3330+2T&gt;G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation. Eur J Med Genet. 2022;65:1204627.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.ejmg.2022.104627\" data-track-item_id=\"10.1016\/j.ejmg.2022.104627\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.ejmg.2022.104627\" aria-label=\"Article reference 19\" data-doi=\"10.1016\/j.ejmg.2022.104627\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 19\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=The%20%C2%ABAmish%C2%BB%20NM_000256.3%3Ac.3330%2B2T%3EG%20splice%20variant%20in%20MYBPC3%20associated%20with%20hypertrophic%20cardiomyopathy%20is%20an%20ancient%20Swiss%20mutation&amp;journal=Eur%20J%20Med%20Genet&amp;doi=10.1016%2Fj.ejmg.2022.104627&amp;volume=65&amp;publication_year=2022&amp;author=Redin%2CC&amp;author=Pavlidou%2CDC&amp;author=Bhuiyan%2CZ&amp;author=Porretta%2CAP&amp;author=Monney%2CP&amp;author=Bedoni%2CN\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"20.\">\n<p class=\"c-article-references__text\" id=\"ref-CR20\">Boen HM, Alaerts M, Van Laer L, Saenen JB, Goovaerts I, Bastianen J, et al. Phenotypic spectrum of the first Belgian MYBPC3 founder: a large multi-exon deletion with a varying phenotype. Front Genet. 2024;15:1392527.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.3389\/fgene.2024.1392527\" data-track-item_id=\"10.3389\/fgene.2024.1392527\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.3389%2Ffgene.2024.1392527\" aria-label=\"Article reference 20\" data-doi=\"10.3389\/fgene.2024.1392527\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXhtlaisrnN\" aria-label=\"CAS reference 20\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=38836037\" aria-label=\"PubMed reference 20\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11148247\" aria-label=\"PubMed Central reference 20\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 20\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Phenotypic%20spectrum%20of%20the%20first%20Belgian%20MYBPC3%20founder%3A%20a%20large%20multi-exon%20deletion%20with%20a%20varying%20phenotype&amp;journal=Front%20Genet&amp;doi=10.3389%2Ffgene.2024.1392527&amp;volume=15&amp;publication_year=2024&amp;author=Boen%2CHM&amp;author=Alaerts%2CM&amp;author=Laer%2CL&amp;author=Saenen%2CJB&amp;author=Goovaerts%2CI&amp;author=Bastianen%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"21.\">\n<p class=\"c-article-references__text\" id=\"ref-CR21\">Coppini R, Ho CY, Ashley E, Day S, Ferrantini C, Girolami F, et al. Clinical Phenotype and Outcome of Hypertrophic Cardiomyopathy Associated With Thin-Filament Gene Mutations. J Am Coll Cardiol. 2014;64:2589\u2013600.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.jacc.2014.09.059\" data-track-item_id=\"10.1016\/j.jacc.2014.09.059\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.jacc.2014.09.059\" aria-label=\"Article reference 21\" data-doi=\"10.1016\/j.jacc.2014.09.059\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2MXhtVCksL0%3D\" aria-label=\"CAS reference 21\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=25524337\" aria-label=\"PubMed reference 21\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4270453\" aria-label=\"PubMed Central reference 21\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 21\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Clinical%20Phenotype%20and%20Outcome%20of%20Hypertrophic%20Cardiomyopathy%20Associated%20With%20Thin-Filament%20Gene%20Mutations&amp;journal=J%20Am%20Coll%20Cardiol&amp;doi=10.1016%2Fj.jacc.2014.09.059&amp;volume=64&amp;pages=2589-600&amp;publication_year=2014&amp;author=Coppini%2CR&amp;author=Ho%2CCY&amp;author=Ashley%2CE&amp;author=Day%2CS&amp;author=Ferrantini%2CC&amp;author=Girolami%2CF\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"22.\">\n<p class=\"c-article-references__text\" id=\"ref-CR22\">Roncarati R, Latronico MVG, Musumeci B, Aurino S, Torella A, Bang M, et al. Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in italian patients with hypertrophic cardiomyopathy. J Cell Physiol. 2011;226:2894\u2013900.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1002\/jcp.22636\" data-track-item_id=\"10.1002\/jcp.22636\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1002%2Fjcp.22636\" aria-label=\"Article reference 22\" data-doi=\"10.1002\/jcp.22636\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC3MXhtVKksrbE\" aria-label=\"CAS reference 22\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=21302287\" aria-label=\"PubMed reference 22\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3229838\" aria-label=\"PubMed Central reference 22\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 22\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Unexpectedly%20low%20mutation%20rates%20in%20beta-myosin%20heavy%20chain%20and%20cardiac%20myosin%20binding%20protein%20genes%20in%20italian%20patients%20with%20hypertrophic%20cardiomyopathy&amp;journal=J%20Cell%20Physiol&amp;doi=10.1002%2Fjcp.22636&amp;volume=226&amp;pages=2894-900&amp;publication_year=2011&amp;author=Roncarati%2CR&amp;author=Latronico%2CMVG&amp;author=Musumeci%2CB&amp;author=Aurino%2CS&amp;author=Torella%2CA&amp;author=Bang%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"23.\">\n<p class=\"c-article-references__text\" id=\"ref-CR23\">Cecconi M, Parodi MI, Formisano F, Spirito P, Autore C, Musumeci MB, et al. Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy. Int J Mol Med. 2016;38:1111\u201324.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.3892\/ijmm.2016.2732\" data-track-item_id=\"10.3892\/ijmm.2016.2732\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.3892%2Fijmm.2016.2732\" aria-label=\"Article reference 23\" data-doi=\"10.3892\/ijmm.2016.2732\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2sXhvFSisrfF\" aria-label=\"CAS reference 23\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=27600940\" aria-label=\"PubMed reference 23\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5029966\" aria-label=\"PubMed Central reference 23\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 23\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Targeted%20next-generation%20sequencing%20helps%20to%20decipher%20the%20genetic%20and%20phenotypic%20heterogeneity%20of%20hypertrophic%20cardiomyopathy&amp;journal=Int%20J%20Mol%20Med&amp;doi=10.3892%2Fijmm.2016.2732&amp;volume=38&amp;pages=1111-24&amp;publication_year=2016&amp;author=Cecconi%2CM&amp;author=Parodi%2CMI&amp;author=Formisano%2CF&amp;author=Spirito%2CP&amp;author=Autore%2CC&amp;author=Musumeci%2CMB\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"24.\">\n<p class=\"c-article-references__text\" id=\"ref-CR24\">Rubattu S, Bozzao C, Pennacchini E, Pagannone E, Musumeci B, Piane M, et al. A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort. Int J Mol Sci. 2016;17:1239.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.3390\/ijms17081239\" data-track-item_id=\"10.3390\/ijms17081239\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.3390%2Fijms17081239\" aria-label=\"Article reference 24\" data-doi=\"10.3390\/ijms17081239\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=27483260\" aria-label=\"PubMed reference 24\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC5000637\" aria-label=\"PubMed Central reference 24\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 24\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20Next-Generation%20Sequencing%20Approach%20to%20Identify%20Gene%20Mutations%20in%20Early-%20and%20Late-Onset%20Hypertrophic%20Cardiomyopathy%20Patients%20of%20an%20Italian%20Cohort&amp;journal=Int%20J%20Mol%20Sci&amp;doi=10.3390%2Fijms17081239&amp;volume=17&amp;publication_year=2016&amp;author=Rubattu%2CS&amp;author=Bozzao%2CC&amp;author=Pennacchini%2CE&amp;author=Pagannone%2CE&amp;author=Musumeci%2CB&amp;author=Piane%2CM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"25.\">\n<p class=\"c-article-references__text\" id=\"ref-CR25\">Sabater-Molina M, Saura D, Garc\u00eda-Molina S\u00e1ez E, Gonz\u00e1lez-Carrillo J, Polo L, P\u00e9rez-S\u00e1nchez I, et al. A Novel Founder Mutation in MYBPC3: Phenotypic Comparison With the Most Prevalent MYBPC3 Mutation in Spain. Rev Esp Cardiol Engl Ed. 2017;70:105\u201314.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.recesp.2016.06.025\" data-track-item_id=\"10.1016\/j.recesp.2016.06.025\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.recesp.2016.06.025\" aria-label=\"Article reference 25\" data-doi=\"10.1016\/j.recesp.2016.06.025\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=28029522\" aria-label=\"PubMed reference 25\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 25\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=A%20Novel%20Founder%20Mutation%20in%20MYBPC3%3A%20Phenotypic%20Comparison%20With%20the%20Most%20Prevalent%20MYBPC3%20Mutation%20in%20Spain&amp;journal=Rev%20Esp%20Cardiol%20Engl%20Ed&amp;doi=10.1016%2Fj.recesp.2016.06.025&amp;volume=70&amp;pages=105-14&amp;publication_year=2017&amp;author=Sabater-Molina%2CM&amp;author=Saura%2CD&amp;author=Garc%C3%ADa-Molina%20S%C3%A1ez%2CE&amp;author=Gonz%C3%A1lez-Carrillo%2CJ&amp;author=Polo%2CL&amp;author=P%C3%A9rez-S%C3%A1nchez%2CI\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"26.\">\n<p class=\"c-article-references__text\" id=\"ref-CR26\">Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, et al. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J. 2023;44:3503\u2013626.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1093\/eurheartj\/ehad194\" data-track-item_id=\"10.1093\/eurheartj\/ehad194\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1093%2Feurheartj%2Fehad194\" aria-label=\"Article reference 26\" data-doi=\"10.1093\/eurheartj\/ehad194\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXhsFOrsrs%3D\" aria-label=\"CAS reference 26\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37622657\" aria-label=\"PubMed reference 26\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 26\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=2023%20ESC%20Guidelines%20for%20the%20management%20of%20cardiomyopathies&amp;journal=Eur%20Heart%20J&amp;doi=10.1093%2Feurheartj%2Fehad194&amp;volume=44&amp;pages=3503-626&amp;publication_year=2023&amp;author=Arbelo%2CE&amp;author=Protonotarios%2CA&amp;author=Gimeno%2CJR&amp;author=Arbustini%2CE&amp;author=Barriales-Villa%2CR&amp;author=Basso%2CC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"27.\">\n<p class=\"c-article-references__text\" id=\"ref-CR27\">Micolonghi C, Perrone F, Fabiani M, Caroselli S, Savio C, Pizzuti A, et al. Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review. Int J Mol Sci. 2024;25:9787.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.3390\/ijms25189787\" data-track-item_id=\"10.3390\/ijms25189787\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.3390%2Fijms25189787\" aria-label=\"Article reference 27\" data-doi=\"10.3390\/ijms25189787\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB2cXit1Cmtb7O\" aria-label=\"CAS reference 27\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=39337275\" aria-label=\"PubMed reference 27\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC11431948\" aria-label=\"PubMed Central reference 27\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 27\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Unveiling%20the%20Spectrum%20of%20Minor%20Genes%20in%20Cardiomyopathies%3A%20A%20Narrative%20Review&amp;journal=Int%20J%20Mol%20Sci&amp;doi=10.3390%2Fijms25189787&amp;volume=25&amp;publication_year=2024&amp;author=Micolonghi%2CC&amp;author=Perrone%2CF&amp;author=Fabiani%2CM&amp;author=Caroselli%2CS&amp;author=Savio%2CC&amp;author=Pizzuti%2CA\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"28.\">\n<p class=\"c-article-references__text\" id=\"ref-CR28\">Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405\u201324.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/gim.2015.30\" data-track-item_id=\"10.1038\/gim.2015.30\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fgim.2015.30\" aria-label=\"Article reference 28\" data-doi=\"10.1038\/gim.2015.30\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=25741868\" aria-label=\"PubMed reference 28\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4544753\" aria-label=\"PubMed Central reference 28\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 28\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Standards%20and%20guidelines%20for%20the%20interpretation%20of%20sequence%20variants%3A%20a%20joint%20consensus%20recommendation%20of%20the%20American%20College%20of%20Medical%20Genetics%20and%20Genomics%20and%20the%20Association%20for%20Molecular%20Pathology&amp;journal=Genet%20Med&amp;doi=10.1038%2Fgim.2015.30&amp;volume=17&amp;pages=405-24&amp;publication_year=2015&amp;author=Richards%2CS&amp;author=Aziz%2CN&amp;author=Bale%2CS&amp;author=Bick%2CD&amp;author=Das%2CS&amp;author=Gastier-Foster%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"29.\">\n<p class=\"c-article-references__text\" id=\"ref-CR29\">Barrett JC. Haploview: Visualization and Analysis of SNP Genotype Data. Cold Spring Harb Protoc. 2009;2009:pdb.ip71.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1101\/pdb.ip71\" data-track-item_id=\"10.1101\/pdb.ip71\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1101%2Fpdb.ip71\" aria-label=\"Article reference 29\" data-doi=\"10.1101\/pdb.ip71\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=20147036\" aria-label=\"PubMed reference 29\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 29\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Haploview%3A%20Visualization%20and%20Analysis%20of%20SNP%20Genotype%20Data&amp;journal=Cold%20Spring%20Harb%20Protoc&amp;doi=10.1101%2Fpdb.ip71&amp;volume=2009&amp;publication_year=2009&amp;author=Barrett%2CJC\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"30.\">\n<p class=\"c-article-references__text\" id=\"ref-CR30\">Duan S, Zhang W, Cox NJ, Dolan ME. FstSNP-HapMap3: a database of SNPs with high population differentiation for HapMap3. Bioinformation. 2008;3:139\u201341.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.6026\/97320630003139\" data-track-item_id=\"10.6026\/97320630003139\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.6026%2F97320630003139\" aria-label=\"Article reference 30\" data-doi=\"10.6026\/97320630003139\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=19238253\" aria-label=\"PubMed reference 30\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2639690\" aria-label=\"PubMed Central reference 30\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 30\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=FstSNP-HapMap3%3A%20a%20database%20of%20SNPs%20with%20high%20population%20differentiation%20for%20HapMap3&amp;journal=Bioinformation&amp;doi=10.6026%2F97320630003139&amp;volume=3&amp;pages=139-41&amp;publication_year=2008&amp;author=Duan%2CS&amp;author=Zhang%2CW&amp;author=Cox%2CNJ&amp;author=Dolan%2CME\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"31.\">\n<p class=\"c-article-references__text\" id=\"ref-CR31\">Little S. Amplification-Refractory Mutation System (ARMS) Analysis of Point Mutations. Curr Protoc Hum Genet [Internet]. 1995 Nov [cited 2024 Dec 12];7. Available from: <a href=\"https:\/\/currentprotocols.onlinelibrary.wiley.com\/doi\/10.1002\/0471142905.hg0908s07\" data-track=\"click_references\" data-track-action=\"external reference\" data-track-value=\"external reference\" data-track-label=\"https:\/\/currentprotocols.onlinelibrary.wiley.com\/doi\/10.1002\/0471142905.hg0908s07\" target=\"_blank\" rel=\"noopener\">https:\/\/currentprotocols.onlinelibrary.wiley.com\/doi\/10.1002\/0471142905.hg0908s07<\/a>.<\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"32.\">\n<p class=\"c-article-references__text\" id=\"ref-CR32\">Mertes C, Scheller IF, Y\u00e9pez VA, \u00c7elik MH, Liang Y, Kremer LS, et al. Detection of aberrant splicing events in RNA-seq data using FRASER. Nat Commun. 2021;12:529.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1038\/s41467-020-20573-7\" data-track-item_id=\"10.1038\/s41467-020-20573-7\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1038%2Fs41467-020-20573-7\" aria-label=\"Article reference 32\" data-doi=\"10.1038\/s41467-020-20573-7\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXit1alsL8%3D\" aria-label=\"CAS reference 32\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33483494\" aria-label=\"PubMed reference 32\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC7822922\" aria-label=\"PubMed Central reference 32\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 32\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Detection%20of%20aberrant%20splicing%20events%20in%20RNA-seq%20data%20using%20FRASER&amp;journal=Nat%20Commun&amp;doi=10.1038%2Fs41467-020-20573-7&amp;volume=12&amp;publication_year=2021&amp;author=Mertes%2CC&amp;author=Scheller%2CIF&amp;author=Y%C3%A9pez%2CVA&amp;author=%C3%87elik%2CMH&amp;author=Liang%2CY&amp;author=Kremer%2CLS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"33.\">\n<p class=\"c-article-references__text\" id=\"ref-CR33\">Holliday M, Singer ES, Ross SB, Lim S, Lal S, Ingles J, et al. Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3. Circ Genom Precis Med. 2021;14:e003202.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1161\/CIRCGEN.120.003202\" data-track-item_id=\"10.1161\/CIRCGEN.120.003202\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1161%2FCIRCGEN.120.003202\" aria-label=\"Article reference 33\" data-doi=\"10.1161\/CIRCGEN.120.003202\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3MXhsFGitLrF\" aria-label=\"CAS reference 33\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=33657327\" aria-label=\"PubMed reference 33\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8284365\" aria-label=\"PubMed Central reference 33\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 33\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Transcriptome%20Sequencing%20of%20Patients%20With%20Hypertrophic%20Cardiomyopathy%20Reveals%20Novel%20Splice-Altering%20Variants%20in%20MYBPC3&amp;journal=Circ%20Genom%20Precis%20Med&amp;doi=10.1161%2FCIRCGEN.120.003202&amp;volume=14&amp;publication_year=2021&amp;author=Holliday%2CM&amp;author=Singer%2CES&amp;author=Ross%2CSB&amp;author=Lim%2CS&amp;author=Lal%2CS&amp;author=Ingles%2CJ\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"34.\">\n<p class=\"c-article-references__text\" id=\"ref-CR34\">Slatkin M, Rannala B. Estimating the age of alleles by use of intraallelic variability. Am J Hum Genet. 1997;60:447\u201358.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:STN:280:DyaK2s7msVKisA%3D%3D\" aria-label=\"CAS reference 34\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=9012419\" aria-label=\"PubMed reference 34\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC1712388\" aria-label=\"PubMed Central reference 34\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 34\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Estimating%20the%20age%20of%20alleles%20by%20use%20of%20intraallelic%20variability&amp;journal=Am%20J%20Hum%20Genet&amp;volume=60&amp;pages=447-58&amp;publication_year=1997&amp;author=Slatkin%2CM&amp;author=Rannala%2CB\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"35.\">\n<p class=\"c-article-references__text\" id=\"ref-CR35\">Genin E, Tullio-Pelet A, Begeot F, Lyonnet S, Abel L. Estimating the age of rare disease mutations: the example of Triple-A syndrome. J Med Genet. 2004;41:445\u20139.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1136\/jmg.2003.017962\" data-track-item_id=\"10.1136\/jmg.2003.017962\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1136%2Fjmg.2003.017962\" aria-label=\"Article reference 35\" data-doi=\"10.1136\/jmg.2003.017962\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BD2cXlsl2gsLc%3D\" aria-label=\"CAS reference 35\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=15173230\" aria-label=\"PubMed reference 35\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC1735818\" aria-label=\"PubMed Central reference 35\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 35\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Estimating%20the%20age%20of%20rare%20disease%20mutations%3A%20the%20example%20of%20Triple-A%20syndrome&amp;journal=J%20Med%20Genet&amp;doi=10.1136%2Fjmg.2003.017962&amp;volume=41&amp;pages=445-9&amp;publication_year=2004&amp;author=Genin%2CE&amp;author=Tullio-Pelet%2CA&amp;author=Begeot%2CF&amp;author=Lyonnet%2CS&amp;author=Abel%2CL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"36.\">\n<p class=\"c-article-references__text\" id=\"ref-CR36\">Adalsteinsdottir B, Teekakirikul P, Maron BJ, Burke MA, Gudbjartsson DF, Holm H, et al. Nationwide Study on Hypertrophic Cardiomyopathy in Iceland: Evidence of a MYBPC3 Founder Mutation. Circulation. 2014;130:1158\u201367.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1161\/CIRCULATIONAHA.114.011207\" data-track-item_id=\"10.1161\/CIRCULATIONAHA.114.011207\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1161%2FCIRCULATIONAHA.114.011207\" aria-label=\"Article reference 36\" data-doi=\"10.1161\/CIRCULATIONAHA.114.011207\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BC2cXhslChtrbI\" aria-label=\"CAS reference 36\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=25078086\" aria-label=\"PubMed reference 36\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 36\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Nationwide%20Study%20on%20Hypertrophic%20Cardiomyopathy%20in%20Iceland%3A%20Evidence%20of%20a%20MYBPC3%20Founder%20Mutation&amp;journal=Circulation&amp;doi=10.1161%2FCIRCULATIONAHA.114.011207&amp;volume=130&amp;pages=1158-67&amp;publication_year=2014&amp;author=Adalsteinsdottir%2CB&amp;author=Teekakirikul%2CP&amp;author=Maron%2CBJ&amp;author=Burke%2CMA&amp;author=Gudbjartsson%2CDF&amp;author=Holm%2CH\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"37.\">\n<p class=\"c-article-references__text\" id=\"ref-CR37\">Christiaans I, Nannenberg EA, Dooijes D, Jongbloed RJE, Michels M, Postema PG, et al. Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J. 2010;18:248\u201354.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"noopener\" data-track-label=\"10.1007\/BF03091771\" data-track-item_id=\"10.1007\/BF03091771\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/link.springer.com\/doi\/10.1007\/BF03091771\" aria-label=\"Article reference 37\" data-doi=\"10.1007\/BF03091771\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:STN:280:DC%2BC3czmvVSkug%3D%3D\" aria-label=\"CAS reference 37\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=20505798\" aria-label=\"PubMed reference 37\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2871745\" aria-label=\"PubMed Central reference 37\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 37\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Founder%20mutations%20in%20hypertrophic%20cardiomyopathy%20patients%20in%20the%20Netherlands&amp;journal=Neth%20Heart%20J&amp;doi=10.1007%2FBF03091771&amp;volume=18&amp;pages=248-54&amp;publication_year=2010&amp;author=Christiaans%2CI&amp;author=Nannenberg%2CEA&amp;author=Dooijes%2CD&amp;author=Jongbloed%2CRJE&amp;author=Michels%2CM&amp;author=Postema%2CPG\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"38.\">\n<p class=\"c-article-references__text\" id=\"ref-CR38\">M\u00e9ndez I, Fern\u00e1ndez AI, Espinosa M\u00c1, Cuenca S, Lorca R, Rodr\u00edguez JF, et al. Founder mutation in myosin-binding protein C with an early onset and a high penetrance in males. Open Heart. 2021;8:e001789.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1136\/openhrt-2021-001789\" data-track-item_id=\"10.1136\/openhrt-2021-001789\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1136%2Fopenhrt-2021-001789\" aria-label=\"Article reference 38\" data-doi=\"10.1136\/openhrt-2021-001789\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=34588271\" aria-label=\"PubMed reference 38\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC8483030\" aria-label=\"PubMed Central reference 38\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 38\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Founder%20mutation%20in%20myosin-binding%20protein%20C%20with%20an%20early%20onset%20and%20a%20high%20penetrance%20in%20males&amp;journal=Open%20Heart&amp;doi=10.1136%2Fopenhrt-2021-001789&amp;volume=8&amp;publication_year=2021&amp;author=M%C3%A9ndez%2CI&amp;author=Fern%C3%A1ndez%2CAI&amp;author=Espinosa%2CM%C3%81&amp;author=Cuenca%2CS&amp;author=Lorca%2CR&amp;author=Rodr%C3%ADguez%2CJF\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"39.\">\n<p class=\"c-article-references__text\" id=\"ref-CR39\">Olivotto I, Maron MS, Adabag AS, Casey SA, Vargiu D, Link MS, et al. Gender-Related Differences in the Clinical Presentation and Outcome of Hypertrophic Cardiomyopathy. J Am Coll Cardiol. 2005;46:480\u20137.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.jacc.2005.04.043\" data-track-item_id=\"10.1016\/j.jacc.2005.04.043\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.jacc.2005.04.043\" aria-label=\"Article reference 39\" data-doi=\"10.1016\/j.jacc.2005.04.043\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=16053962\" aria-label=\"PubMed reference 39\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 39\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Gender-Related%20Differences%20in%20the%20Clinical%20Presentation%20and%20Outcome%20of%20Hypertrophic%20Cardiomyopathy&amp;journal=J%20Am%20Coll%20Cardiol&amp;doi=10.1016%2Fj.jacc.2005.04.043&amp;volume=46&amp;pages=480-7&amp;publication_year=2005&amp;author=Olivotto%2CI&amp;author=Maron%2CMS&amp;author=Adabag%2CAS&amp;author=Casey%2CSA&amp;author=Vargiu%2CD&amp;author=Link%2CMS\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"40.\">\n<p class=\"c-article-references__text\" id=\"ref-CR40\">Pioner JM, Vitale G, Steczina S, Langione M, Margara F, Santini L, et al. Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM. Circ Res. 2023;132:628\u201344.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1161\/CIRCRESAHA.122.321956\" data-track-item_id=\"10.1161\/CIRCRESAHA.122.321956\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1161%2FCIRCRESAHA.122.321956\" aria-label=\"Article reference 40\" data-doi=\"10.1161\/CIRCRESAHA.122.321956\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"cas reference\" data-track-action=\"cas reference\" href=\"https:\/\/www.nature.com\/articles\/cas-redirect\/1:CAS:528:DC%2BB3sXhsVClu7fN\" aria-label=\"CAS reference 40\" target=\"_blank\">CAS<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=36744470\" aria-label=\"PubMed reference 40\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC9977265\" aria-label=\"PubMed Central reference 40\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 40\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Slower%20Calcium%20Handling%20Balances%20Faster%20Cross-Bridge%20Cycling%20in%20Human%20MYBPC3%20HCM&amp;journal=Circ%20Res&amp;doi=10.1161%2FCIRCRESAHA.122.321956&amp;volume=132&amp;pages=628-44&amp;publication_year=2023&amp;author=Pioner%2CJM&amp;author=Vitale%2CG&amp;author=Steczina%2CS&amp;author=Langione%2CM&amp;author=Margara%2CF&amp;author=Santini%2CL\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"41.\">\n<p class=\"c-article-references__text\" id=\"ref-CR41\">Jansen M, Schmidt AF, Jans JJM, Christiaans I, Van Der Crabben SN, Hoedemaekers YM, et al. Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers. J Cardiovasc Transl Res. 2023;16:1267\u201375.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"noopener\" data-track-label=\"10.1007\/s12265-023-10398-2\" data-track-item_id=\"10.1007\/s12265-023-10398-2\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/link.springer.com\/doi\/10.1007\/s12265-023-10398-2\" aria-label=\"Article reference 41\" data-doi=\"10.1007\/s12265-023-10398-2\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=37278928\" aria-label=\"PubMed reference 41\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed central reference\" data-track-action=\"pubmed central reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC10721678\" aria-label=\"PubMed Central reference 41\" target=\"_blank\">PubMed Central<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 41\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Circulating%20Acylcarnitines%20Associated%20with%20Hypertrophic%20Cardiomyopathy%20Severity%3A%20an%20Exploratory%20Cross-Sectional%20Study%20in%20MYBPC3%20Founder%20Variant%20Carriers&amp;journal=J%20Cardiovasc%20Transl%20Res&amp;doi=10.1007%2Fs12265-023-10398-2&amp;volume=16&amp;pages=1267-75&amp;publication_year=2023&amp;author=Jansen%2CM&amp;author=Schmidt%2CAF&amp;author=Jans%2CJJM&amp;author=Christiaans%2CI&amp;author=Crabben%2CSN&amp;author=Hoedemaekers%2CYM\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n<li class=\"c-article-references__item js-c-reading-companion-references-item\" data-counter=\"42.\">\n<p class=\"c-article-references__text\" id=\"ref-CR42\">Lorca R, G\u00f3mez J, Mart\u00edn M, Cabanillas R, Calvo J, Le\u00f3n V, et al. Insights Into Hypertrophic Cardiomyopathy Evaluation Through Follow-up of a Founder Pathogenic Variant. Rev Esp Cardiol Engl Ed. 2019;72:138\u201344.<\/p>\n<p class=\"c-article-references__links u-hide-print\"><a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"10.1016\/j.recesp.2018.01.029\" data-track-item_id=\"10.1016\/j.recesp.2018.01.029\" data-track-value=\"article reference\" data-track-action=\"article reference\" href=\"https:\/\/doi.org\/10.1016%2Fj.recesp.2018.01.029\" aria-label=\"Article reference 42\" data-doi=\"10.1016\/j.recesp.2018.01.029\" target=\"_blank\">Article<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" rel=\"nofollow noopener\" data-track-label=\"link\" data-track-item_id=\"link\" data-track-value=\"pubmed reference\" data-track-action=\"pubmed reference\" href=\"http:\/\/www.ncbi.nlm.nih.gov\/entrez\/query.fcgi?cmd=Retrieve&amp;db=PubMed&amp;dopt=Abstract&amp;list_uids=29631964\" aria-label=\"PubMed reference 42\" target=\"_blank\">PubMed<\/a>\u00a0<br \/>\n    <a data-track=\"click_references\" data-track-action=\"google scholar reference\" data-track-value=\"google scholar reference\" data-track-label=\"link\" data-track-item_id=\"link\" rel=\"nofollow noopener\" aria-label=\"Google Scholar reference 42\" href=\"http:\/\/scholar.google.com\/scholar_lookup?&amp;title=Insights%20Into%20Hypertrophic%20Cardiomyopathy%20Evaluation%20Through%20Follow-up%20of%20a%20Founder%20Pathogenic%20Variant&amp;journal=Rev%20Esp%20Cardiol%20Engl%20Ed&amp;doi=10.1016%2Fj.recesp.2018.01.029&amp;volume=72&amp;pages=138-44&amp;publication_year=2019&amp;author=Lorca%2CR&amp;author=G%C3%B3mez%2CJ&amp;author=Mart%C3%ADn%2CM&amp;author=Cabanillas%2CR&amp;author=Calvo%2CJ&amp;author=Le%C3%B3n%2CV\" target=\"_blank\"><br \/>\n                    Google Scholar<\/a>\u00a0\n                <\/p>\n<\/li>\n","protected":false},"excerpt":{"rendered":"Carrier L. Targeting the population for gene therapy with MYBPC3. J Mol Cell Cardiol. 2021;150:101\u20138. Article\u00a0 CAS\u00a0 PubMed\u00a0&hellip;\n","protected":false},"author":2,"featured_media":147405,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[7445,3967,63295,17908,10562,17907,3968,267,3969,70,16,15],"class_list":{"0":"post-147404","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-bioinformatics","9":"tag-biomedicine","10":"tag-cardiac-hypertrophy","11":"tag-cytogenetics","12":"tag-disease-genetics","13":"tag-gene-expression","14":"tag-general","15":"tag-genetics","16":"tag-human-genetics","17":"tag-science","18":"tag-uk","19":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114603743183894655","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/147404","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=147404"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/147404\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/147405"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=147404"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=147404"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=147404"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}