Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.G183C
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GJC2

NM_020435.4:p.G183C

Associated Papers

Description of Phenotypic Heterogeneity in a GJC2-Related Family and Literature Review.

Ghasemi A et al.

Molecular Syndromology, 2023

Mutations in cardiovascular connexin genes.

Molica F et al.

Biology of the Cell, 2014

Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.

Finegold DN et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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."