Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.V143D
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KRT5

NM_000424.4:p.V143D

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

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.

Jerábková B et al.

The British Journal of Dermatology, 2010

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

Yasukawa K et al.

The British Journal of Dermatology, 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."