Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.P58A
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GJB1

NM_000166.6:p.P58A

Associated Papers

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

A new de novo missense mutation in connexin 26 in a sporadic case of nonsyndromic deafness.

Primignani P et al.

The Laryngoscope, 2007

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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."