Functional Analysis of G6PD Variants Associated with Low G6PD Activity in the All of Us Research Program
PHARMACOGENETICS AND GENOMICS（2025）
关键词
G6PD,glucose-6-phosphate dehydrogenase,All of Us,G6PD deficiency,LOINC,phenotype curation,pharmacogenetics,GWAS,permutation testing,power simulation,ACMG,WHO,ClinVar,ClinGen,variant interpretation,hemolytic anemia,Saccharomyces cerevisiae,functional assay
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