Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.N14K
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GJB4

NM_153212.3:p.N14K

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

Diseases associated with leaky hemichannels.

Retamal MA et al.

Frontiers in Cellular Neuroscience, 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

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

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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."