Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.I446T
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KRT10

NM_000421.5:p.I446T

Associated Papers

Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation.

Reolid A et al.

Jaad Case Reports, 2020

Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.

Terrinoni A et al.

Plos One, 2018

In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses.

Banerjee S et al.

Oncotarget, 2016

Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.

Mirza H et al.

The Journal of Investigative Dermatology, 2015

New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy.

Sheth N et al.

The British Journal of Dermatology, 2007

Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation.

Betlloch I et al.

Pediatric Dermatology, 0

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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."