Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.P638S
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RBM20

NM_001134363.3:p.P638S

Associated Papers

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

Roman A et al.

Molecular Therapy. Nucleic Acids, 2025

Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.

Gregorich ZR et al.

Circulation. Genomic and Precision Medicine, 2024

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

Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy.

Li M et al.

Journal of Translational Medicine, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."