Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.L453P
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KRT10

NM_000421.5:p.L453P

Associated Papers

Genetic testing and new variants in diagnosis of congenital ichthyoses.

Salo M et al.

Molecular Genetics & Genomic Medicine, 2024

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

Yang Z et al.

Pediatric Investigation, 2023

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

Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.

Virtanen M et al.

The Journal of Investigative Dermatology, 2003

Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma.

McLean WH et al.

Experimental Dermatology, 1999

Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation.

Betlloch I et al.

Pediatric Dermatology, 0

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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."