Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.C1639*
Back to variants list

EXPH5

NM_015065.3:p.C1639*

Associated Papers

Recessive epidermolysis bullosa simplex due to EXPH5 variants: case series of a rare subtype with multiple faces.

Grutters LA et al.

The British Journal of Dermatology, 2025

Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene.

Olbrich H et al.

Clinical and Experimental Dermatology, 2023

Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5.

Olbrich H et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2023

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."