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Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders

BiochemistryHeme HomeostasisMedicineGeneticsPhysiologyHematologyInherited Metabolic DiseaseHuman PolymorphismPhd2 D4eMetabolismTibetan HighlandersPolymorphism LowersHealth Sciences