Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.L203P
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KRT5

NM_000424.4:p.L203P

Associated Papers

Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.

Chen F et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations.

Bchetnia M et al.

Stem Cell Research, 2022

A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex.

Jiang X et al.

Annals of Dermatology, 2021

Weber-Cockayne Type Epidermolysis Bullosa Simplex Resulting from a Novel Mutation (c. 608T>C) in the Keratin 5 Gene.

Cho JW et al.

Annals of Dermatology, 2014

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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."