Varaico: Literature-Extracted Genetic Variants

Gene:POR
Variant:p.H607R
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POR

NM_001395413.1:p.H607R

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

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Zhang J et al.

Frontiers in Endocrinology, 2022

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Perne C et al.

Plos One, 2021

34843512 (PubMed )
Supplement: pone.0259185.s010.xlsx › Tabelle1

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.

Fan L et al.

Orphanet Journal of Rare Diseases, 2019

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

Hart SN et al.

Expert Opinion on Drug Metabolism & Toxicology, 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."