Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.L153V
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KRT10

NM_000421.5:p.L153V

Associated Papers

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort.

Frommherz L et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Wertheim-Tysarowska K et al.

Orphanet Journal of Rare Diseases, 2024

39501396 (PubMed )
Supplement: 13023_2024_3395_MOESM3_ESM.docx

Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10.

Abdul-Wahab A et al.

Clinical and Experimental Dermatology, 2016

Successful topical adapalene treatment for the facial lesions of an adolescent case of epidermolytic ichthyosis.

Ogawa M et al.

Journal of the American Academy of Dermatology, 2014

A case of epidermolytic hyperkeratosis with no facial involvement associated with mutation in keratin 10.

Ishii N et al.

Clinical and Experimental Dermatology, 2008

A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin10 leads to bullous congenital ichthyosiform erythroderma.

Ishiko A et al.

The Journal of Investigative Dermatology, 2001

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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."