Varaico: Literature-Extracted Genetic Variants

Gene:KRT1
Variant:p.L458P
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KRT1

NM_006121.4:p.L458P

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

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

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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."