Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.L28F
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CYP21A2

NM_000500.9:p.L28F

Associated Papers

Accurate diagnosis of congenital adrenal hyperplasia due to CYP21A2 variants requires promoter analysis.

Schernthaner-Reiter MH et al.

European Journal of Endocrinology, 2025

Genetics of 21-OH Deficiency and Genotype-Phenotype Correlation: Experience of the Hellenic National Referral Center.

Fylaktou I et al.

Current Issues in Molecular Biology, 2024

A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.

Doleschall M et al.

European Journal of Human Genetics : Ejhg, 2017

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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."