Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.R357P
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CYP21A2

NM_000500.9:p.R357P

Associated Papers

Molecular Landscape of Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency in India.

Dubey S et al.

Indian Journal of Pediatrics, 2026

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

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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."