Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.R169G
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KRT5

NM_000424.4:p.R169G

Associated Papers

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

Jiang X et al.

Annals of Dermatology, 2021

Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex.

Minakawa S et al.

Journal of Dermatological Science, 2013

Expression of a mutated allele, non-reduced by aging, in a Japanese family with localized epidermolysis bullosa simplex due to a novel mutation, p.Arg169Gly, of keratin 5 gene.

Uchiyama K et al.

European Journal of Dermatology : Ejd, 2013

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