Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.G519delFs
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KRT1

NM_006121.4:p.G519delFs

Associated Papers

A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth-Macklin.

Yang Z et al.

Clinical and Experimental Dermatology, 2020

A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.

Richardson ES et al.

The Journal of Investigative 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."