Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.Y143*
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DHCR7

NM_001360.3:p.Y143*

Associated Papers

Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.

Pappu AS et al.

Journal of Lipid Research, 2006

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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."