Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.T186T
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GJB2

NM_004004.6:p.T186T

Associated Papers

Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.

Zhou Y et al.

Molecular Genetics & Genomic Medicine, 2019

Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.

Chen K et al.

Journal of Translational Medicine, 2014

Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.

Ji YB et al.

Acta Oto-laryngologica, 2011

Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea.

Kim HJ et al.

Clinical and Experimental Otorhinolaryngology, 2010

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.

Wattanasirichaigoon D et al.

Clinical 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."