Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.F450L
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CYP21A2

NM_000500.9:p.F450L

Associated Papers

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

Concolino P et al.

Molecular Diagnosis & Therapy, 2021

Identification of novel and rare CYP21A2 variants in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Xu J et al.

Clinical Biochemistry, 2019

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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."