Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24
Variant:p.G466Splc
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DHCR24

NM_014762.4:p.G466Splc

Associated Papers

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

Wassif CA et al.

Molecular Genetics and Metabolism, 2005

Congenital brain anomalies in distal cholesterol biosynthesis defects.

Hennekam RC

Journal of Inherited Metabolic Disease, 2005

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Jira PE et al.

Annals of Human Genetics, 2003

Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditions.

Opitz JM et al.

Pediatric Pathology & Molecular Medicine, 0

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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."