Varaico: Literature-Extracted Genetic Variants

Gene:KRT9
Variant:p.L160F
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KRT9

NM_000226.4:p.L160F

Associated Papers

Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review.

Liu X et al.

Molecular Genetics & Genomic Medicine, 2019

Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.

Xiao H et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2018

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma.

Li Y et al.

Frontiers in Genetics, 2018

A recurrent p.M157R mutation of keratin 9 gene in a Chinese family with epidermolytic palmoplantar keratoderma and literature review.

Liang YH et al.

International Journal of Dermatology, 2014

The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.

Liu WT et al.

Anatomical Record (hoboken, N.j. : 2007), 2012

Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.

Shimomura Y et al.

Clinical and Experimental Dermatology, 2010

Mutation M157R of keratin 9 in a Chinese family with epidermolytic palmoplantar keratoderma.

Zhao JJ et al.

International Journal of Dermatology, 2008

Analysis of phenotype-genotype connection: the story of dissecting disease pathogenesis in genomic era in China, and beyond.

Shen Y et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2007

Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads.

Chiu HC et al.

Journal of Dermatological Science, 2007

The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses.

Hamada T et al.

The Journal of Dermatology, 2005

A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.

He XH et al.

The British Journal of Dermatology, 2004

A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.

Lu Y et al.

American Journal of Medical Genetics. Part A, 2003

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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."