Varaico: Literature-Extracted Genetic Variants

Gene:KRT9
Variant:p.L164P
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KRT9

NM_000226.4:p.L164P

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

Novel KRT9 missense mutation in a Japanese case of epidermolytic palmoplantar keratoderma.

Fukunaga Y et al.

The Journal of Dermatology, 2018

Mutations in the highly conserved 1A rod domain of keratin 9 responsible for epidermolytic palmoplantar keratoderma in four Chinese families.

Mao B et al.

The Journal of Dermatology, 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

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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."