Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.Y449D
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KRT10

NM_000421.5:p.Y449D

Associated Papers

Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis.

Takemoto K et al.

European Journal of Dermatology : Ejd, 2019

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

Novel mutation of the KRT 10 gene in a Japanese patient with epidermolytic hyperkeratosis.

Makino T et al.

The Journal of Dermatology, 2012

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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."