Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.G425_R427del0
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CYP21A2

NM_000500.9:p.G425_R427del0

Associated Papers

A novel 9 bp deletion (c.1271_1279delGTGCCCGCG) in exon 10 of CYP21A2 gene causing severe congenital adrenal hyperplasia.

Anastasovska V et al.

Endocrine, 2021

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."