Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.Q124*
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GJB6

NM_001110219.3:p.Q124*

Associated Papers

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.

Pavithra A 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, 2017

Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.

Li TC et al.

Molecular Medicine Reports, 2015

Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population.

Bajaj Y et al.

Clinical Otolaryngology : Official Journal of Ent-uk ; Official Journal of Netherlands Society for Oto-rhino-laryngology & Cervico-facial Surgery, 2008

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

Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.

Ausems MG et al.

Journal of Medical Genetics, 2001

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

Scott DA et al.

Human Mutation, 1998

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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."