Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.F142I
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GJB2

NM_004004.6:p.F142I

Associated Papers

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.

Posukh OL et al.

Biomolecules, 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

Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.

Chen T et al.

Annals of Human Genetics, 2014

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