Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.R156L
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KRT10

NM_000421.5:p.R156L

Associated Papers

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.

Frommherz L et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

Mutations in KRT10 in epidermolytic acanthoma.

Cheraghlou S et al.

Journal of Cutaneous Pathology, 2020

Multiscale modeling of keratin, collagen, elastin and related human diseases: Perspectives from atomistic to coarse-grained molecular dynamics simulations.

Yeo J et al.

Extreme Mechanics Letters, 2018

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Hotz A et al.

Acta Dermato-venereologica, 2016

R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosis.

Haruna K et al.

The Journal of Dermatology, 2007

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD et al.

Experimental Dermatology, 1996

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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."