Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.R292H
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DSG2

NM_001943.5:p.R292H

Associated Papers

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.

Zhang B et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.

Headrick AT et al.

Molecular Genetics & Genomic Medicine, 2019

30985088 (PubMed )
Supplement: MGG3-7-e593-s003.docx

A recessive inheritance pattern contributes to arrhythmogenic biventricular cardiomyopathy.

Jiménez-Jáimez J et al.

Revista Espanola De Cardiologia (english Ed.), 2014

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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."