Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.N188I
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KRT1

NM_006121.4:p.N188I

Associated Papers

A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.

Calì F et al.

Dermatology Online Journal, 2020

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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."