Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.H73R
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GJB4

NM_153212.3:p.H73R

Associated Papers

Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.

Martin PE et al.

Cell and Tissue Research, 2015

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

Iossa S et al.

Current Genomics, 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

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