Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.V37E
Back to variants list

GJB4

NM_153212.3:p.V37E

Associated Papers

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

Zhang X et al.

Experimental Dermatology, 2022

Mechanisms linking connexin mutations to human diseases.

Kelly JJ et al.

Cell and Tissue Research, 2015

Connexins and skin disease: insights into the role of beta connexins in skin homeostasis.

Martin PE et al.

Cell and Tissue Research, 2015

Overview of skin diseases linked to connexin gene mutations.

Avshalumova L et al.

International Journal of Dermatology, 2014

Connexins in epidermal homeostasis and skin disease.

Scott CA et al.

Biochimica Et Biophysica Acta, 2012

Gap junctions in inherited human disease.

Zoidl G et al.

Pflugers Archiv : European Journal of Physiology, 2010

Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.

Nemoto-Hasebe I et al.

The British Journal of Dermatology, 2009

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

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."