Article

Protein haploinsufficiency drivers identify<i>MYBPC3</i>mutations that cause hypertrophic cardiomyopathy

2020-05-08

Abstract excerpt

<h4>ABSTRACT</h4> Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Mutations in MYBPC3 , the gene encoding cardiac myosin-binding protein C (cMyBP-C), are a leading cause of HCM. However, it remains challenging to define whether specific gene variants found in patients are pathogenic or not, limiting the reach of cardiovascular genetics in the management of HCM. Here, we have examine...

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Literature Corpus work: d5aaa4e2-ea81-5ce3-8c18-3ef643f60247
DOI: 10.1101/2020.05.04.20087726

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