Varaico: Literature-Extracted Genetic Variants

Gene:KRT2
Variant:p.S496R
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KRT2

NM_000423.3:p.S496R

Associated Papers

Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.

Basarab T et al.

The British Journal of Dermatology, 1999

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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."