Varaico: Literature-Extracted Genetic Variants

Gene:UGT8
Variant:p.L248L
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UGT8

NM_001128174.3:p.L248L

Associated Papers

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene.

Waterham HR et al.

American Journal of Human Genetics, 1998

[Smith-Lemli-Opitz syndrome; a special defect in cholesterol metabolism].

Aalfs CM et al.

Nederlands Tijdschrift Voor Geneeskunde, 1996

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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."