Varaico: Literature-Extracted Genetic Variants

Gene:POR
Variant:p.Y178D
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POR

NM_001395413.1:p.Y178D

Associated Papers

Restoration of mutant cytochrome P450 reductase activity by external flavin.

Nicolo C et al.

Molecular and Cellular Endocrinology, 2010

Human cytochrome P450 oxidoreductase deficiency caused by the Y181D mutation: molecular consequences and rescue of defect.

Marohnic CC et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2010

Modulation of human CYP19A1 activity by mutant NADPH P450 oxidoreductase.

Pandey AV et al.

Molecular Endocrinology (baltimore, Md.), 2007

Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase.

Flück CE et al.

Fundamental & Clinical Pharmacology, 2007

Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype.

Shackleton C et al.

American Journal of Medical Genetics. Part A, 2004

P450 oxidoreductase deficiency.

Miller WL et al.

Lancet (london, England), 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."