Varaico: Literature-Extracted Genetic Variants

Gene:RBM20
Variant:p.L1082R
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RBM20

NM_001134363.3:p.L1082R

Associated Papers

Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.

Chen J et al.

Orphanet Journal of Rare Diseases, 2022

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3
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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."