Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.R127Q
Back to variants list

GJB6

NM_001110219.3:p.R127Q

Associated Papers

GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.

Buonfiglio P et al.

Genes, 2020

Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.

Falah M et al.

Fetal and Pediatric Pathology, 2020

Systematic Review of Pathogenic GJB2 Variants in the Latino Population.

Bouzaher MH et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020

The genetic basis of deafness in populations of African descent.

Rudman JR et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2017

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

Correlation between GJB2 mutations and audiological deficits: personal experience.

Picciotti PM 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, 2009

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 in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.

Frei K et al.

The Laryngoscope, 2005

Molecular epidemiology of DFNB1 deafness in France.

Roux AF et al.

Bmc Medical Genetics, 2004

Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China.

Bian P et al.

Inquiry : a Journal of Medical Care Organization, Provision and Financing, 0

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."