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Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program

28 Nov 2024

Abstract excerpt

The glucose-6-phosphate dehydrogenase (G6PD) enzyme protects red blood cells against oxidative damage. Individuals with G6PD-impairing polymorphisms are at risk of hemolytic anemia from oxidative stressors. Prevention of G6PD deficiency-related hemolytic anemia is achievable by identifying affected individuals through G6PD genetic testing. However, accurately predicting the clinical consequence of G6PD variants...

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PMID: 39607789
DOI: 10.1093/genetics/iyae170

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