Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.E47K
Back to variants list

GJB6

NM_001110219.3:p.E47K

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

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

Han XH et al.

Genetica, 2014

The DFNB1 subtype of autosomal recessive non-syndromic hearing impairment.

del Castillo FJ et al.

Frontiers in Bioscience (landmark Edition), 2011

GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss.

Zhang J et al.

Genetic Testing and Molecular Biomarkers, 2011

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

Dai P et al.

Journal of Translational Medicine, 2009

[Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China].

Li Q et al.

Zhonghua Yi Xue Za Zhi, 2007

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."