Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.E170G
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KRT5

NM_000424.4:p.E170G

Associated Papers

The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.

Has C et al.

Acta Dermato-venereologica, 2018

Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

Bolling MC et al.

The British Journal of Dermatology, 2011

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

Rugg EL et al.

The Journal of Investigative Dermatology, 2007

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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."