Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.C211fs
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GJB2

NM_004004.6:p.C211fs

Associated Papers

A Novel 1259 bp Intragenic Deletion in the GJB2 Gene in a Mexican Family with Congenital Profound Hearing Loss.

Oaxaca-Castillo D et al.

Audiology Research, 2025

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.

Bliznetz EA et al.

Journal of Human Genetics, 2017

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

Del Castillo FJ et al.

Frontiers in Molecular Neuroscience, 2017

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