Article
The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia).
Genes - 28 Apr 2023
Pshennikova Vera G, Teryutin Fedor M, Cherdonova Alexandra M, Borisova Tuyara V, Solovyev Aisen V, Romanov Georgii P, Morozov Igor V, Bondar Alexander A, Posukh Olga L, Fedorova Sardana A, Barashkov Nikolay A
Abstract excerpt
The GJB2 (Cx26) gene pathogenic variants are associated with autosomal recessive deafness type 1A (DFNB1A, OMIM #220290). Direct sequencing of the GJB2 gene among 165 hearing-impaired individuals living in the Baikal Lake region of Russia identified 14 allelic variants: pathogenic/likely pathogenic-nine variants, benign-three variants, unclassified-one variant, and one novel variant. The contribution of the GJB2...
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