Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.P152L
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KRT5

NM_000424.4:p.P152L

Associated Papers

Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14.

Kim E et al.

The British Journal of Dermatology, 2017

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

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."