RBM20-mutations induce disturbed splicing of calcium relevant genes in patient-specific stem cell models of cardiomyopathies
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DOI: 10.1093/ehjci/ehaa946.3707
Abstract: Mutations in the splice factor RBM20 have been identified to account for ∼3% of cardiomyopathies. In particular, the highly conserved RS-domain is a hotspot for disease-associated mutations. Distinct mutations at position 634 in the RS-domain… read more here.
Keywords: dcm lvnc; cms; ca2; rbm20 ... See more keywords