A study identifies natural missplicing events exacerbated by a deep-intronic variant in the MYBPC3 gene as a cause of hypertrophic cardiomyopathy. This discovery enhances understanding of the genetic mechanisms underlying this condition.
natural missplicing events amplified by an elusive deep intronic mybpc3 variant cause hypertrophic cardiomyopathy
Original title: “Natural Missplicing Events Amplified by an Elusive Deep-Intronic MYBPC3 Variant Cause Hypertrophic Cardiomyopathy.”