Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.R187P
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KRT5

NM_000424.4:p.R187P

Associated Papers

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

Bolling MC et al.

The British Journal of Dermatology, 2011

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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."