Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.E456delFs
Back to variants list

KRT10

NM_000421.5:p.E456delFs

Associated Papers

Genetic testing and new variants in diagnosis of congenital ichthyoses.

Salo M et al.

Molecular Genetics & Genomic Medicine, 2024

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

31638346 (PubMed )
Supplement: JCMM-23-8442-s007.docx
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."