Literature summary for 1.1.1.49 extracted from

Minucci, A.; Concolino, P.; Vendittelli, F.; Giardina, B.; Zuppi, C.; Capoluongo, E.
Glucose-6-phosphate dehydrogenase Buenos Aires: a novel de novo missense mutation associated with severe enzyme deficiency (2008), Clin. Biochem., 41, 742-745.

Protein Variants

Protein Variants	Comment	Organism
P489S	missense mutation associated with severe enzyme deficiency	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue	Comment	Organism	Textmining
buccal epithelial cell	-	Homo sapiens	-

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Release 2023.1 (January 2023)