Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.V533I
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DSG2

NM_001943.5:p.V533I

Associated Papers

Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Gao J et al.

Circulation. Arrhythmia and Electrophysiology, 2023

36866681 (PubMed )
Supplement: circae_circae-2022-011387_supp1.pdf

Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Wada Y et al.

Molecular Genetics & Genomic Medicine, 2017

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1
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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."