Back

The contribution of RBM20 truncating variants to human cardiomyopathy

2025-07-27 cardiovascular medicine Title + abstract only
View on medRxiv
Show abstract

BackgroundGenetic diagnosis has become increasingly important to guide clinical decision making for patients with dilated cardiomyopathy (DCM). Disease-causing (P/LP) missense variants in the gene RBM20 cause a highly penetrant arrhythmogenic dilated cardiomyopathy (DCM), but the role of truncating RBM20 variants (RBM20tvs) is unclear. ObjectiveAssess the contribution of RBM20tvs to DCM. MethodsWe assembled an international cohort of DCM patients with RBM20 variants and used data from the geno...

Predicted journal destinations