Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.C202R
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GJB2

NM_004004.6:p.C202R

Associated Papers

Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.

Tsai CY et al.

Computational and Structural Biotechnology Journal, 2023

38074473 (PubMed )
Supplement: mmc1.docx

A novel dominant GJB2 (DFNA3) mutation in a Chinese family.

Wang H et al.

Scientific Reports, 2017

A Novel De Novo Dominant Mutation in GJB2 Gene Associated with a Sporadic Case of Nonsyndromic Sensorineural Hearing Loss.

Onsori H et al.

Iranian Journal of Public Health, 2014

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