Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.A40G
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GJB1

NM_000166.6:p.A40G

Associated Papers

Connexinopathies: a structural and functional glimpse.

García IE et al.

Bmc Cell Biology, 2016

Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.

Han XH et al.

Genetica, 2014

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.

Primignani P et al.

Genetic Testing and Molecular Biomarkers, 2009

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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."