Evidence for <i>G6PD</i> variant classification from multiplexed functional assays

Abstract excerpt

G6PD deficiency is one of the most common enzyme deficiencies worldwide, and increases the likelihood of adverse reactions to certain drugs and foods. Identifying people at risk is challenging, since most are asymptomatic until they encounter a trigger. This is further complicated since over 60% of 1,559 known genetic variants in G6PD are variants of uncertain significance and thus cannot guide drug prescribing a...

Topics

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• Amino Acid Substitution
• Biocatalysis
• Genetic Variation
• Glucosephosphate Dehydrogenase
• Glucosephosphate Dehydrogenase Deficiency
• Mutation
• Mutation, Missense
• Neonatal Health and Biochemistry

Identifiers and source

Literature Corpus work

5b9e97a7-89b2-5e9f-8547-9925d7ec010c

DOI

10.1101/2025.08.11.669723