Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.F146F
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GJB2

NM_004004.6:p.F146F

Associated Papers

Prevalence of GJB2 Mutations in Affected Individuals from United Arab Emirates with Autosomal Recessive Nonsyndromic Hearing Loss.

Tlili A et al.

Genetic Testing and Molecular Biomarkers, 2017

Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.

Yuan Y et al.

Plos One, 2012

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

Dai P et al.

Journal of Translational Medicine, 2009

Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non-syndromic hearing impairment.

Kupka S et al.

Human Mutation, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."