Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.G4E
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GJB6

NM_001110219.3:p.G4E

Associated Papers

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.

Yuan Y et al.

Journal of Translational Medicine, 2010

[Sequence analysis of GJB3 in Chinese deafness population who carry one heterozygous GJB2 pathogenic mutation].

Yuan YY et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2010

Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.

Al-Qahtani MH et al.

Genetic Testing and Molecular Biomarkers, 2010

Pediatric cholesteatoma and variants in the gene encoding connexin 26.

James AL et al.

The Laryngoscope, 2010

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

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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."