Open access
Sep 2026
Pathogenic variants in myoferlin (MYOF) cause arrhythmogenic cardiomyopathy
A. Kirillova, Metin Aytekin, Irene N. Chan et al.
· medRxiv · 0 citations
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The data indicate that pathogenic E-rich domain variants reduce RBM20 protein abundance, but that their mechanism is unlikely to be explained by haploinsufficiency alone.
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