Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.A39V
Back to variants list

GJB6

NM_001110219.3:p.A39V

Associated Papers

A novel missense mutation in the connexin30 causes nonsyndromic hearing loss.

Wang WH et al.

Plos One, 2011

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.

Taylor RA et al.

Neurology, 2003

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Kleopa KA et al.

Journal of Neuroscience Research, 2002

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."