Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.E99K
Back to variants list

GJB4

NM_153212.3:p.E99K

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

Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3.

Kokotas H et al.

European Journal of Dermatology : Ejd, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."