Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.H76N
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EBP

NM_006579.3:p.H76N

Associated Papers

High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation.

Umekoji A et al.

Journal of Dermatological Science, 2008

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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."