Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.Q171P
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KRT5

NM_000424.4:p.Q171P

Associated Papers

Natal teeth, hypoplasia of the first toe, and growth retardation in a patient with severe epidermolysis bullosa simplex.

Shimomura-Ishihara M et al.

The Journal of Dermatology, 2024

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD et al.

Experimental Dermatology, 1996

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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."