Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.V359I
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CYP21A2

NM_000500.9:p.V359I

Associated Papers

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

Prado MJ et al.

Frontiers in Pharmacology, 2022

Molecular Analysis of 21-Hydroxylase Deficiency Reveals Two Novel Severe Genotypes in Affected Newborns.

Concolino P et al.

Molecular Diagnosis & Therapy, 2021

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

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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."