Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.N54K
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GJB4

NM_153212.3:p.N54K

Associated Papers

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

Iossa S et al.

Current Genomics, 2011

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Bazazzadegan N et al.

American Journal of Medical Genetics. Part A, 2011

Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.

Nemoto-Hasebe I et al.

The British Journal of Dermatology, 2009

Life cycle of connexins in health and disease.

Laird DW

The Biochemical Journal, 2006

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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."