Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.R239W
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GJA1

NM_000165.5:p.R239W

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM2_ESM.xlsx › S2

GJA1 gene variations in sudden unexplained nocturnal death syndrome in the Chinese Han population.

Wu Q et al.

Forensic Science International, 2017

Genetic testing of candidate genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Campuzano O et al.

European Journal of Medical Genetics, 2012

Mutations of connexin43 in fetuses with congenital heart malformations.

Chen P et al.

Chinese Medical Journal, 2005

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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."