Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.E490K
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KRT1

NM_006121.4:p.E490K

Associated Papers

De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus.

Ge M et al.

Dna and Cell Biology, 2023

Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.

Ansai O et al.

Clinical and Experimental Dermatology, 2023

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

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.

Arin MJ et al.

The British Journal 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."