Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.H63Y
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CYP21A2

NM_000500.9:p.H63Y

Associated Papers

Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.

Liang D et al.

Genome Medicine, 2025

41469707 (PubMed )
Supplement: 13073_2025_1594_MOESM1_ESM.pdf

The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.

Gug M et al.

International Journal of Molecular Sciences, 2025

41303398 (PubMed )
Supplement: ijms-26-10912-s001.zip › Table_S1.pdf
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