Open access
Sep 2026
Natural Missplicing Events Amplified by an Elusive Deep-Intronic MYBPC3 Variant Cause Hypertrophic Cardiomyopathy.
BACKGROUND Disruption of MYBPC3 precursor mRNA splicing is a frequent genetic cause of hypertrophic cardiomyopathy (HCM). Most often, it reflects changes at canonical sites or the creation of novel splice sites. Prediction tools usually prioritize splice variants with lower efficiency when they are distant from canonic...
M. Gallego-Delgado, S. L. Lorenzo Hernández, Soledad García Hernández et al.
· Circulation · 0 citations