Varaico: Literature-Extracted Genetic Variants

Gene:KRT17
Variant:p.L79R
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KRT17

NM_000422.3:p.L79R

Associated Papers

A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

Svendsen T et al.

Acta Dermato-venereologica, 2014

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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."