Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.A428D
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KRT5

NM_000424.4:p.A428D

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

A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplex.

Stawczyk-Macieja M et al.

Experimental Dermatology, 2019

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

Sathishkumar D et al.

The Journal of Investigative Dermatology, 2016

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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."