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Functional interpretation, cataloging, and analysis of 1,341 known and new glucose-6-phosphate dehydrogenase variants
ABSTRACTGlucose-6-Phosphate Dehydrogenase (G6PD) deficiency affects over 500 million individuals who can experience anemia in response to oxidative stressors such as certain foods and drugs. Recently, the World Health Organization (WHO) called for revisiting G6PD variant classification as a priority to implement genetic medicine in low- and middle-income countries. Towards this goal, we sought to collect reports of G6PD variants and provide interpretations. We identified 1,341 G6PD variants indoi:10.1101/2022.09.14.508023 fatcat:ns7cvq332nhc5imq6zcbb5ku2y