Varaico: Literature-Extracted Genetic Variants

Gene:CYP21A2
Variant:p.H63D
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CYP21A2

NM_000500.9:p.H63D

Associated Papers

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

Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.

Wildin RS et al.

Journal of Personalized Medicine, 2022

Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.

Punj S et al.

American Journal of Human Genetics, 2018

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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."