Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.R156G
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KRT10

NM_000421.5:p.R156G

Associated Papers

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

Assays to Study Consequences of Cytoplasmic Intermediate Filament Mutations: The Case of Epidermal Keratins.

Tan TS et al.

Methods in Enzymology, 2016

Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a useful in vitro model for testing new treatments.

Chamcheu JC et al.

The British Journal of Dermatology, 2011

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

Haruna K et al.

The Journal of Dermatology, 2007

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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."