Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.S635F
Back to variants list

RBM20

NM_001134363.3:p.S635F

Associated Papers

Reduced Expression of MTSS1 Increases Sarcomere Number and Improves Contractility in Select Forms of Monogenic DCM.

Kleppe H et al.

Jacc. Basic to Translational Science, 2025

Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies.

Reichart D et al.

Science (new York, N.y.), 2022

35926050 (PubMed )
Supplement: NIHMS1835045-supplement-Supp__table_1.xlsx › disease_samples
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."