Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.G366V
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DHCR7

NM_001360.3:p.G366V

Associated Papers

Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.

Koczok K et al.

Biomolecules, 2021

Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure.

Korade Z et al.

Journal of Lipid Research, 2017

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

Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.

Oláh AV et al.

European Journal of Pediatrics, 2013

Mutational spectrum of Smith-Lemli-Opitz syndrome.

Waterham HR et al.

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

A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement.

Szabó GP et al.

European Journal of Pediatrics, 2010

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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."