Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.N146Y
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KRT5

NM_000424.4:p.N146Y

Associated Papers

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

Jiang X et al.

Annals of Dermatology, 2021

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.

Wertheim-Tysarowska K et al.

Journal of Applied Genetics, 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."