Varaico: Literature-Extracted Genetic Variants

Gene:POR
Variant:p.D162V
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POR

NM_001395413.1:p.D162V

Associated Papers

POR polymorphisms are associated with 21 hydroxylase deficiency.

Pecori Giraldi F et al.

Journal of Endocrinological Investigation, 2021

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.

Burkhard FZ et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2017

Pharmacogenomics of human P450 oxidoreductase.

Pandey AV et al.

Frontiers in Pharmacology, 2014

Genetic polymorphisms and haplotypes of por, encoding cytochrome p450 oxidoreductase, in a Japanese population.

Saito Y et al.

Drug Metabolism and Pharmacokinetics, 2011

Clinical and biochemical consequences of p450 oxidoreductase deficiency.

Flück CE et al.

Endocrine Development, 2011

Genetic variation in human P450 oxidoreductase.

Miller WL et al.

Molecular and Cellular Endocrinology, 2009

Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19.

Agrawal V et al.

Pharmacogenetics and Genomics, 2008

P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity.

Hart SN et al.

Expert Opinion on Drug Metabolism & Toxicology, 2008

Genetics of P450 oxidoreductase: sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutations.

Huang N et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia.

Flück CE et al.

Endocrine Development, 2008

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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."