Varaico: Literature-Extracted Genetic Variants

Gene:KRT10
Variant:p.L436P
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KRT10

NM_000421.5:p.L436P

Associated Papers

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

Yang Z et al.

Pediatric Investigation, 2023

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

Sun Q et al.

Jama Dermatology, 2022

Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10.

Kuske M et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2019

Epidermolytische Ichthyose mit Nachweis einer De-novo-Missense-Mutation c.1307T>C; p.Leu436Pro in KRT10.

Kuske M et al.

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2019

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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."