Article

The contribution of <i>RBM20</i> truncating variants to human cardiomyopathy

2025-07-27

Abstract excerpt

<h4>Background</h4> Genetic 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. <h4>Objective</h4> Assess the contribution of RBM20tvs to DC...

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Literature Corpus work: f0476a58-abdc-5a80-9821-ea63d437dd52
DOI: 10.1101/2025.07.26.25332081

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