Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.S458delFs
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KRT10

NM_000421.5:p.S458delFs

Associated Papers

The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.

Sun Q et al.

Jama Dermatology, 2022

Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization.

Pan Y et al.

Journal of Dermatological Science, 2020

Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.

Renz P et al.

Journal of Cellular and Molecular Medicine, 2019

Revertant mosaicism in genodermatoses.

Lim YH et al.

Cellular and Molecular Life Sciences : Cmls, 2017

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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."