Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.E156fs
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DSG2

NM_001943.5:p.E156fs

Associated Papers

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.

van Lint FHM et al.

Circulation. Genomic and Precision Medicine, 2019

31386562 (PubMed )
Supplement: circgenetics_circcvg-2019-002467_supp1.pdf

Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.

Lin Y et al.

Bmc Medical Genetics, 2018

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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."