Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E190K
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KRT5

NM_000424.4:p.E190K

Associated Papers

KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex.

Kiener S et al.

Animal Genetics, 2022

36004757 (PubMed )
Supplement: AGE-53-892-s002.xlsx › priv.prot.changing_variants_het

Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.

Kopečková L et al.

The British Journal of Dermatology, 2016

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

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

Müller FB et al.

Human Mutation, 2006

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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."