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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RBM20

Variant:p.V914I

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RBM20

NM_001134363.3:p.V914I

hg38:chr10:110821359 G>A

Associated Papers

Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.

Gaertner A et al.

Human Mutation, 2020

32840935 (PubMed )

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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."