Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.S85F
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GJB2

NM_004004.6:p.S85F

Associated Papers

Genotype-phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1G>A splice site variant of the GJB2 gene (Cx26).

Teryutin FM et al.

Plos One, 2024

The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia).

Pshennikova VG et al.

Genes, 2023

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1
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