Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.T326A
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GJA1

NM_000165.5:p.T326A

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

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
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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."