Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.N14Y
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GJB1

NM_000166.6:p.N14Y

Associated Papers

X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.

Butler J et al.

Frontiers in Cellular Neuroscience, 2023

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

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

Iossa S et al.

Current Genomics, 2011

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

Connexin-26 mutations in deafness and skin disease.

Lee JR et al.

Expert Reviews in Molecular Medicine, 2009

Gap-junction channels dysfunction in deafness and hearing loss.

Martínez AD et al.

Antioxidants & Redox Signaling, 2009

A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.

de Zwart-Storm EA et al.

Journal of Medical Genetics, 2008

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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."