Article
Evidence for G6PD variant classification from multiplexed functional assays.
Genome biology - 4 Jun 2026
Geck Renee C, Wheelock Melinda K, Powell Rachel L, Wang Ziyu R, Holmes Daniel L, Fayer Shawn, Boyle Gabriel E, Vandi Allyssa J, McGee Abby V, Amorosi Clara J, Moore Nick, Rubin Alan F, Fowler Douglas M, Dunham Maitreya J
Abstract excerpt
BACKGROUND: G6PD deficiency is one of the most common enzyme deficiencies worldwide, and increases the likelihood of adverse reactions to certain drugs and foods. As availability of routine sequencing and biobanking increases, more variants in G6PD have been identified but not connected to phenotypes, since most G6PD-deficient individuals are asymptomatic until they encounter a trigger. This is further...
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