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Next-generation sequencing unravels homozygous mutation in glucose-6-phosphate isomerase, GPI c.1040G > A (p.Arg347His) causing hemolysis in an Indian infant

Gpi C.1040gGenetic DisorderGeneticsInherited Metabolic DiseaseHematologyIndian InfantPathologyGlucose-6-phosphate IsomeraseMolecular GeneticsGenomicsHeme HomeostasisMedicine