Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.I70V
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DSG2

NM_001943.5:p.I70V

Associated Papers

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.

Zhang B et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S4

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.

Rajkumar R et al.

Bmc Medical Genetics, 2012

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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."