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Genetic variants at the EGLN1 locus associated with high-altitude adaptation in Tibetans are absent or found at low frequency in highland Andeans

Heinrich, E.C. ; Wu, L. ; Lawrence, E.S. ; Cole, A.M. ; Anza-Ramirez, C. ; Villafuerte, F.C. ; Simonson, T.S. | Wiley | 2019-12-06T20:57:49Z

EGLN1 encodes the hypoxia-inducible factor (HIF) pathway prolyl hydroxylase 2 (PHD2) that serves as an oxygen-sensitive regulator of HIF activity. The EGLN1 locus exhibits a signature of positive selection in Tibetan and Andean populations and i[...]

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