Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.R32Q
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GJB6

NM_001110219.3:p.R32Q

Associated Papers

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.

Koohiyan M et al.

Annals of Human Genetics, 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

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.

Koohiyan M et al.

Journal of Audiology & Otology, 2019

Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.

Naddafnia H et al.

Molecular Genetics & Genomic Medicine, 2019

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.

Koohiyan M et al.

International Journal of Pediatric Otorhinolaryngology, 2018

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Hoefsloot LH et al.

European Journal of Human Genetics : Ejhg, 2013

The association between GJB2 mutation and GJB6 gene in non syndromic hearing loss school children.

Asma A et al.

The Medical Journal of Malaysia, 2011

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

Molecular epidemiology of DFNB1 deafness in France.

Roux AF et al.

Bmc Medical Genetics, 2004

Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations.

Sanecka A et al.

Brazilian Journal of Otorhinolaryngology, 0

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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."