Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.A428T
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KRT5

NM_000424.4:p.A428T

Associated Papers

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

Jiang X et al.

Annals of Dermatology, 2021

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

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

García M et al.

The British Journal of Dermatology, 2011

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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."