Varaico: Literature-Extracted Genetic Variants

Gene:CYP19A1
Variant:p.R457Q
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CYP19A1

NM_000103.4:p.R457Q

Associated Papers

Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.

Zhang D et al.

Reproductive Sciences (thousand Oaks, Calif.), 2025

Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.

Gusmano C et al.

Journal of Endocrinological Investigation, 2023

Infertility treatment for Chinese women with P450 oxidoreductase deficiency: Prospect on clinical management from IVF to FET.

Li Y et al.

Frontiers in Endocrinology, 2022

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Successful live birth in a Chinese woman with P450 oxidoreductase deficiency through frozen-thawed embryo transfer: a case report with review of the literature.

Pan P et al.

Journal of Ovarian Research, 2021

A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene.

Oh J et al.

Annals of Laboratory Medicine, 2017

P450 oxidoreductase deficiency with maternal virilization during pregnancy.

Nakanishi K et al.

Clinical and Experimental Obstetrics & Gynecology, 2016

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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."