Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.A171S
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GJB2

NM_004004.6:p.A171S

Associated Papers

Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss.

Maslova EA et al.

Biomolecules, 2021

33466560 (PubMed )
Supplement: biomolecules-11-00061-s001.pdf

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss.

Zhang J et al.

Genetic Testing and Molecular Biomarkers, 2011

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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."