Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.L341P
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DHCR7

NM_001360.3:p.L341P

Associated Papers

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

Boland MR et al.

The Pharmacogenomics Journal, 2016

27401223 (PubMed )
Supplement: tpj201648x1.pdf

Mutational spectrum of Smith-Lemli-Opitz syndrome.

Waterham HR et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012

Recent insights into the Smith-Lemli-Opitz syndrome.

Yu H et al.

Clinical Genetics, 2005

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

Wassif CA et al.

Molecular Genetics and Metabolism, 2005

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.

Correa-Cerro LS et al.

Molecular Genetics and Metabolism, 2005

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Jira PE et al.

Annals of Human Genetics, 2003

DHCR7 and Smith-Lemli-Opitz syndrome.

Nowaczyk MJ et al.

Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2001

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.

Nowaczyk MJ et al.

Clinical Genetics, 2001

Mutations in the human DHCR7 gene.

Witsch-Baumgartner M et al.

Human Mutation, 2001

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

Krakowiak PA et al.

American Journal of Medical Genetics, 2000

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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."