Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.V287L
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CYP21A2

NM_000500.9:p.V287L

Associated Papers

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

Non-classic cytochrome P450 oxidoreductase deficiency strongly linked with menstrual cycle disorders and female infertility as primary manifestations.

Papadakis GE et al.

Human Reproduction (oxford, England), 2020

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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."