Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.N177del1
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KRT5

NM_000424.4:p.N177del1

Associated Papers

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5.

Chong SC et al.

Case Reports in Pediatrics, 2020

Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.

Kang TW et al.

Journal of Dermatological Science, 2010

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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."