Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.L452P
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KRT10

NM_000421.5:p.L452P

Associated Papers

The X-Ray Crystal Structure of the Keratin 1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease.

Bunick CG et al.

The Journal of Investigative Dermatology, 2017

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."