Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.C174S
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GJB2

NM_004004.6:p.C174S

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

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

Mori K et al.

Plos One, 2016

27627659 (PubMed )
Supplement: pone.0162230.s001.xlsx › table_S1

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

Usami S et al.

Plos One, 2012

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