Varaico: Literature-Extracted Genetic Variants

Gene:KRT5
Variant:p.S584insFs
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KRT5

NM_000424.4:p.S584insFs

Associated Papers

Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.

Sprecher E et al.

The Journal of Investigative Dermatology, 2003

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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."