Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.S26Y
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GJB4

NM_153212.3:p.S26Y

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

The genetic and molecular basis of a connexin-linked skin disease.

Lucaciu SA et al.

The Biochemical Journal, 2024

Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4.

Zhang X et al.

Experimental Dermatology, 2022

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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."