Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.V282G
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CYP21A2

NM_000500.9:p.V282G

Associated Papers

Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2.

Prado MJ et al.

Frontiers in Pharmacology, 2022

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.

Baumgartner-Parzer S et al.

European Journal of Human Genetics : Ejhg, 2020

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.

Simonetti L et al.

Human Mutation, 2018

Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.

Pallan PS et al.

Molecular Endocrinology (baltimore, Md.), 2015

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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."