Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.D179H
Back to variants list

GJB6

NM_001110219.3:p.D179H

Associated Papers

A genotype-phenotype correlation in Sicilian patients with GJB2 biallelic mutations.

Martines F et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2015

Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss.

Salvago P et al.

International Journal of Audiology, 2014

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."