Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.E352G
Back to variants list

GJA1

NM_000165.5:p.E352G

Associated Papers

Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.

Kobayashi H et al.

American Journal of Medical Genetics. Part A, 2020

Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality.

Britz-Cunningham SH et al.

The New England Journal of Medicine, 1995

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."