Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.T469P
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KRT5

NM_000424.4:p.T469P

Associated Papers

In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation.

Banerjee S et al.

Molecular Biosystems, 2014

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."