Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.R22H
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GJB5

NM_005268.4:p.R22H

Associated Papers

Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.

Lucaciu SA et al.

The Journal of Physiology, 2025

Familial trigeminal neuralgia - a systematic clinical study with a genomic screen of the neuronal electrogenisome.

Di Stefano G et al.

Cephalalgia : an International Journal of Headache, 2020

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

Richard G et al.

The Journal of Investigative Dermatology, 2003

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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."