Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.F191L
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GJB6

NM_001110219.3:p.F191L

Associated Papers

Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation.

Murshidi R et al.

Case Reports in Dermatological Medicine, 2023

Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix.

Ambrosi C et al.

Plos One, 2013

GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss.

Zhang J et al.

Genetic Testing and Molecular Biomarkers, 2011

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

Dai P et al.

Journal of Translational Medicine, 2009

The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.

Dahl HH et al.

Journal of Medical Genetics, 2006

First molecular screening of deafness in the Altai Republic population.

Posukh O et al.

Bmc Medical Genetics, 2005

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.

Wattanasirichaigoon D et al.

Clinical Genetics, 2004

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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."