Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.C169W
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GJB6

NM_001110219.3:p.C169W

Associated Papers

Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.

Li TC et al.

Molecular Medicine Reports, 2015

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

Richard G et al.

The Journal of Investigative Dermatology, 2003

A case of erythrokeratoderma variabilis without mutations in connexin 31.

Ishida-Yamamoto A et al.

The British Journal of Dermatology, 2000

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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."