Varaico: Literature-Extracted Genetic Variants

Gene:GJB5
Variant:p.M190L
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GJB5

NM_005268.4:p.M190L

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

Connexins in epidermal homeostasis and skin disease.

Scott CA et al.

Biochimica Et Biophysica Acta, 2012

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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."