Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.N14K
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GJB1

NM_000166.6:p.N14K

Associated Papers

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

Butler J et al.

Frontiers in Cellular Neuroscience, 2023

Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.

Chen B et al.

Clinical Neurology and Neurosurgery, 2019

Diseases associated with leaky hemichannels.

Retamal MA et al.

Frontiers in Cellular Neuroscience, 2015

Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.

Stancanelli C et al.

Journal of the Peripheral Nervous System : Jpns, 2012

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

Iossa S et al.

Current Genomics, 2011

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."