Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.L100fs
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CYP21A2

NM_000500.9:p.L100fs

Associated Papers

Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).

Monteiro A et al.

Hormones (athens, Greece), 2023

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