Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.L486R
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KRT1

NM_006121.4:p.L486R

Associated Papers

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.

Smith FJD et al.

Clinical and Experimental Dermatology, 2019

Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.

Sung JY et al.

Journal of Dermatological Science, 2013

Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation.

Osawa R et al.

Journal of the American Academy 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."