Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.S458Splc
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KRT10

NM_000421.5:p.S458Splc

Associated Papers

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.

Yang Z et al.

Pediatric Investigation, 2023

37736367 (PubMed )
Supplement: PED4-7-168-s001.pdf

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

Sun Q et al.

Jama Dermatology, 2022

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

Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.

Elango T et al.

Human Genomics, 2018

Revertant mosaicism in genodermatoses.

Lim YH et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing.

Saito R et al.

The British Journal of Dermatology, 2017

Ichthyosis with confetti: clinics, molecular genetics and management.

Guerra L et al.

Orphanet Journal of Rare Diseases, 2015

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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."