Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.E445K
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KRT10

NM_000421.5:p.E445K

Associated Papers

Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses.

March OP et al.

Cells, 2020

Gene Editing-Mediated Disruption of Epidermolytic Ichthyosis-Associated KRT10 Alleles Restores Filament Stability in Keratinocytes.

March OP et al.

The Journal of Investigative Dermatology, 2019

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

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

Bygum A et al.

Acta Dermato-venereologica, 2013

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."