Varaico: Literature-Extracted Genetic Variants

Gene:KRT16
Variant:p.R127H
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KRT16

NM_005557.4:p.R127H

Associated Papers

A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology.

Noda T et al.

The Journal of Dermatology, 2024

Focal Palmoplantar Keratoderma and Gingival Keratosis Caused by a KRT16 Mutation.

Zaki TD et al.

Cutis, 2022

Molecular epidemiology of pachyonychia congenita in the Israeli population.

Pavlovsky M et al.

Clinical and Experimental Dermatology, 2021

Conservation and Identity Selection of Cationic Residues Flanking the Hydrophobic Regions in Intermediate Filament Superfamily.

Zhang W et al.

Frontiers in Chemistry, 2021

A KRT16 mutation in the first Chinese pedigree with Pachyonychia congenita and review of the literatures.

Xu Q et al.

Journal of Cosmetic Dermatology, 2019

The molecular genetic analysis of the expanding pachyonychia congenita case collection.

Wilson NJ et al.

The British Journal of Dermatology, 2014

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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."