Associated Papers
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2
In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.
Nurhafizuddin M et al.
Molecules (basel, Switzerland), 2022
Genetic polymorphisms and haplotypes of por, encoding cytochrome p450 oxidoreductase, in a Japanese population.
Saito Y et al.
Drug Metabolism and Pharmacokinetics, 2011
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
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