Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.D179N
Back to variants list

GJB6

NM_001110219.3:p.D179N

Associated Papers

Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation.

Wang H et al.

Frontiers in Cell and Developmental Biology, 2021

Permeant-specific gating of connexin 30 hemichannels.

Nielsen BS et al.

The Journal of Biological Chemistry, 2017

A novel dominant GJB2 (DFNA3) mutation in a Chinese family.

Wang H et al.

Scientific Reports, 2017

Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.

Han XH et al.

Genetica, 2014

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Bazazzadegan N et al.

American Journal of Medical Genetics. Part A, 2011

Phenotypes of two Dutch DFNA3 families with mutations in GJB2.

Weegerink NJ et al.

The Annals of Otology, Rhinology, and Laryngology, 2011

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."