Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.F405S
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CYP21A2

NM_000500.9:p.F405S

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

Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India.

Karlekar M et al.

Indian Pediatrics, 2024

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."