Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.S139N
Back to variants list

GJB6

NM_001110219.3:p.S139N

Associated Papers

Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population.

Hernandez-Nieto C et al.

Prenatal Diagnosis, 2020

Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia.

Plevova P et al.

Medicina (kaunas, Lithuania), 2018

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

Han XH et al.

Genetica, 2014

Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran.

Daneshi A et al.

The Journal of Laryngology and Otology, 2011

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

Dai P et al.

Journal of Translational Medicine, 2009

Infant hearing loss and connexin testing in a diverse population.

Schimmenti LA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008

[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

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

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL et al.

American Journal of Human Genetics, 2005

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.

Feldmann D et al.

American Journal of Medical Genetics. Part A, 2004

Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.

Wu BL et al.

American Journal of Medical Genetics. Part A, 2003

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."