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Author

Hanna Eberl

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Open access Jul 2026

RBM20 variants disrupt Ca2+ handling and metabolism in dilated and non-compaction cardiomyopathy stem cell models

Mutations in the splice-regulator RBM20 cause heart failure with reduced ejection fraction (HFrEF), typically manifesting as dilated cardiomyopathy (DCM). Mutations at position 634 in the RS-domain cause DCM with (R634L) or without (R634W) left ventricular non-compaction (LVNC). However, the mechanisms underlying pheno...

S. Rebs, F. Sedaghat-Hamedani, E. Kayvanpour et al. · 0 citations

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