Varaico: Literature-Extracted Genetic Variants

Gene:HMGCR
Variant:p.M260_S261Splc
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HMGCR

NM_000859.3:p.M260_S261Splc

Associated Papers

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).

Haas D et al.

Journal of Inherited Metabolic Disease, 2007

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts.

Wassif CA et al.

Molecular Genetics and Metabolism, 2005

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Jira PE et al.

Annals of Human Genetics, 2003

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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."