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

Tashi T, Scott Reading N, Wuren T, Zhang X, Moore LG, Hu H, Tang F, Shestakova A, Lorenzo F, Burjanivova T, Koul P, Guchhait P, Wittwer CT, Julian CG, Shah B, Huff CD, Gordeuk VR, Prchal JT, Ge R. Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2a) polymorphism lowers hemoglobin concentration in Tibetan highlanders. J Mol Med (Berl). 2017 06; 95(6):665-670.

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