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

This study describes GPI p.Arg347His mutation for the first time from India and is the first report of red cell GPI deficiency diagnosed using NGS-based resequencing and highlights the potential of this technique in clinical practice.