Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.G421R
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KRT5

NM_000424.4:p.G421R

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

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.

Yu Y et al.

Acta Dermato-venereologica, 2021

Digenic inheritance of KRT5 and KRT14 mutations in a family with epidermolysis bullosa simplex.

Yu Y et al.

The Australasian Journal of Dermatology, 2020

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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."