Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.A40V
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GJB3

NM_024009.3:p.A40V

Associated Papers

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

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

The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.

Mhaske PV et al.

American Journal of Physiology. Cell Physiology, 2013

Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.

Oh SK et al.

Biochimica Et Biophysica Acta, 2013

Gap junctions in inherited human disorders of the central nervous system.

Abrams CK et al.

Biochimica Et Biophysica Acta, 2012

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

Iossa S et al.

Current Genomics, 2011

Etiology of unilateral hearing loss in a national hereditary deafness repository.

Dodson KM et al.

American Journal of Otolaryngology, 0

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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."