Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.R636L
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RBM20

NM_001134363.3:p.R636L

Associated Papers

Prime editing corrects the dilated cardiomyopathy causing RBM20-P633L-mutation in human cardiomyocytes.

Roman A et al.

Molecular Therapy. Nucleic Acids, 2025

RBM20 p.Arg636Cys: A Pathogenic Variant Identified in a Family with Several Cases of Unexpected Sudden Deaths.

Lorca R et al.

Journal of Clinical Medicine, 2025

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Heliö K et al.

Frontiers in Cardiovascular Medicine, 2023

37795486 (PubMed )
Supplement: Table1.xlsx › Sheet1
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