Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.R184K
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GJB6

NM_001110219.3:p.R184K

Associated Papers

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates.

Kriukelis R et al.

European Journal of Human Genetics : Ejhg, 2025

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Yu X et al.

Orphanet Journal of Rare Diseases, 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

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

Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants.

Du W et al.

Acta Oto-laryngologica, 2014

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

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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."