Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.K199T
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KRT5

NM_000424.4:p.K199T

Associated Papers

Molecular profiling of a cohort with epidermolysis bullosa in India: a single centre experience.

Kumar A et al.

Clinical and Experimental Dermatology, 2025

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

Jiang X et al.

Annals of Dermatology, 2021

A novel KRT5 mutation, p.Lys199Asn, is associated with three subtypes of epidermolysis bullosa simplex phenotypes in a single Chinese family.

Deng W et al.

Journal of Dermatological Science, 2011

A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of epidermolysis bullosa simplex.

Bowden PE et al.

Experimental Dermatology, 2009

A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.

Xu Z et al.

Clinical and Experimental Dermatology, 2004

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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."