Varaico: Literature-Extracted Genetic Variants

Gene:KRT14
Variant:p.L418V
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KRT14

NM_000526.5:p.L418V

Associated Papers

Mutations Affecting Keratin 10 Surface-Exposed Residues Highlight the Structural Basis of Phenotypic Variation in Epidermolytic Ichthyosis.

Mirza H et al.

The Journal of Investigative Dermatology, 2015

Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

Rugg EL et al.

The Journal of Investigative Dermatology, 2007

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

Müller FB et al.

Human Mutation, 2006

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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."