Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.G12R
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GJB5

NM_005268.4:p.G12R

Associated Papers

From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.

García IE et al.

The Journal of Investigative Dermatology, 2016

Mechanisms linking connexin mutations to human diseases.

Kelly JJ et al.

Cell and Tissue Research, 2015

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

Martin PE et al.

Cell and Tissue Research, 2015

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

A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.

Morley SM et al.

The British Journal of Dermatology, 2005

Connexins: a connection with the skin.

Richard G

Experimental Dermatology, 2000

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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."