Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.C174Y
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GJB2

NM_004004.6:p.C174Y

Associated Papers

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.

Khan A et al.

Molecular Genetics & Genomic Medicine, 2019

Wan Du et al. - Prevalence of GJB2 mutations in the Silk Road region of China and a report of three novel variants. Acta Oto-Laryngol 2014; 134: 373-381.

Hellström S

Acta Oto-laryngologica, 2018

DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

Del Castillo FJ et al.

Frontiers in Molecular Neuroscience, 2017

[Analysis on GJB2 gene mutations with nonsyndromic hearing impairment in Kazak patients of Xinjiang].

Wang C et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2014

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

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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."