Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.E792insFs
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RBM20

NM_001134363.3:p.E792insFs

Associated Papers

Hypertrophic cardiomyopathy in MYBPC3 carriers in aging.

Ananthamohan K et al.

The Journal of Cardiovascular Aging, 2024

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

The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.

Gaertner A et al.

Genes, 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."