Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.G111delFs
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CYP21A2

NM_000500.9:p.G111delFs

Associated Papers

A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.

Jia A et al.

Pharmacogenomics and Personalized Medicine, 2023

Genotype and clinical outcomes in children with congenital adrenal hyperplasia.

Yoon JY et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2021

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2021

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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."