Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.L831F
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DSG2

NM_001943.5:p.L831F

Associated Papers

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.

Zhang B et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients.

Pilichou K et al.

Circulation. Arrhythmia and Electrophysiology, 2017

Unraveling Missing Genes and Missing Inheritance in Arrhythmogenic Cardiomyopathy.

Chen SN et al.

Circulation. Arrhythmia and Electrophysiology, 2017

Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

Rigato I et al.

Circulation. Cardiovascular Genetics, 2013

Mechanistic basis of desmosome-targeted diseases.

Al-Jassar C et al.

Journal of Molecular Biology, 2013

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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."