Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.Q191P
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KRT5

NM_000424.4:p.Q191P

Associated Papers

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

Easy method for keratin 14 gene amplification to exclude pseudogene sequences: new keratin 5 and 14 mutations in epidermolysis bullosa simplex.

Glász-Bóna A et al.

The Journal of Investigative Dermatology, 2009

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."