Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.T86S
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GJB6

NM_001110219.3:p.T86S

Associated Papers

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.

Morris JA et al.

International Journal of Molecular Sciences, 2026

Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China.

Cai L et al.

Frontiers in Genetics, 2021

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

Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.

Chen S et al.

Genetic Testing and Molecular Biomarkers, 2016

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

Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene.

Zhao FF et al.

Genetic Testing and Molecular Biomarkers, 2011

Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China.

Bian P et al.

Inquiry : a Journal of Medical Care Organization, Provision and Financing, 0

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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."