Varaico: Literature-Extracted Genetic Variants

Gene:POR
Variant:p.N211Splc
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POR

NM_001395413.1:p.N211Splc

Associated Papers

Intronic polymorphisms of cytochromes P450.

Ingelman-Sundberg M et al.

Human Genomics, 2010

Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency.

Fukami M et al.

Molecular Genetics and Metabolism, 2010

Genetic and clinical features of p450 oxidoreductase deficiency.

Scott RR et al.

Hormone Research, 2008

Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.

Homma K et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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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."