Varaico: Literature-Extracted Genetic Variants

Gene:POR
Variant:p.E578G
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POR

NM_001395413.1:p.E578G

Associated Papers

In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.

Nurhafizuddin M et al.

Molecules (basel, Switzerland), 2022

Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.

Fukami M et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

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

Hart SN et al.

Expert Opinion on Drug Metabolism & Toxicology, 2008

Genetic and clinical features of p450 oxidoreductase deficiency.

Scott RR et al.

Hormone Research, 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."