Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.C427*
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KRT10

NM_000421.5:p.C427*

Associated Papers

Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self-improving epidermolytic ichthyosis.

Frommherz L et al.

The British Journal of Dermatology, 2020

Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.

Elango T et al.

Human Genomics, 2018

A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis.

Gutierrez JA et al.

Molecular Genetics & Genomic Medicine, 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

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.

Covaciu C et al.

The British Journal of Dermatology, 2010

Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene.

Terheyden P et al.

The Journal of Investigative Dermatology, 2009

Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation.

Tsubota A et al.

The Journal of Investigative Dermatology, 2008

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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."