Varaico: Literature-Extracted Genetic Variants

Gene:GJA4
Variant:p.A40V
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GJA4

NM_002060.3:p.A40V

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

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

Martin PE et al.

Cell and Tissue Research, 2015

Diseases associated with leaky hemichannels.

Retamal MA et al.

Frontiers in Cellular Neuroscience, 2015

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

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

Iossa S et al.

Current Genomics, 2011

Gap junctions in inherited human disease.

Zoidl G et al.

Pflugers Archiv : European Journal of Physiology, 2010

Connexin-26 mutations in deafness and skin disease.

Lee JR et al.

Expert Reviews in Molecular Medicine, 2009

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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."