Varaico: Literature-Extracted Genetic Variants

Gene:DHCR24
Variant:p.W151*
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DHCR24

NM_014762.4:p.W151*

Associated Papers

Sterol metabolism disorders and neurodevelopment-an update.

Kanungo S et al.

Developmental Disabilities Research Reviews, 2013

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

Malformation syndromes due to inborn errors of cholesterol synthesis.

Porter FD

The Journal of Clinical Investigation, 2002

Inherited disorders of cholesterol biosynthesis.

Waterham HR

Clinical Genetics, 2002

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."