Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.G45D
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GJB6

NM_001110219.3:p.G45D

Associated Papers

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

Prevalent connexin 26 gene (GJB2) mutations in Japanese.

Abe S et al.

Journal of Medical Genetics, 2000

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

Fuse Y et al.

Neuroreport, 1999

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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."