Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.E489K
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KRT1

NM_006121.4:p.E489K

Associated Papers

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

Smith FJD et al.

Clinical and Experimental Dermatology, 2019

Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.

Kubo A et al.

The Journal of Dermatology, 2013

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

Generalized and naevoid epidermolytic ichthyosis in Denmark: clinical and mutational findings.

Bygum A et al.

Acta Dermato-venereologica, 2013

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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."