Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.G130V
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GJB6

NM_001110219.3:p.G130V

Associated Papers

GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Iossa S et al.

Current Genomics, 2011

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

Connexin-26 mutations in deafness and skin disease.

Lee JR et al.

Expert Reviews in Molecular Medicine, 2009

Mutation analysis of the GJB2 (connexin 26) gene in Egypt.

Snoeckx RL et al.

Human Mutation, 2005

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