Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E477*
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KRT5

NM_000424.4:p.E477*

Associated Papers

Occurrence of autoantibodies against skin proteins in patients with hereditary epidermolysis bullosa predisposes to development of autoimmune blistering disease.

Lehr S et al.

Frontiers in Immunology, 2022

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

Sathishkumar D et al.

The Journal of Investigative Dermatology, 2016

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

De novo mutations in monilethrix.

Horev L et al.

Experimental Dermatology, 2003

Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.

Livingston RJ et al.

The Journal of Investigative Dermatology, 2001

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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."