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Paper Title
Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders.
PubMed
Paper Journal Title
J Mol Med (Berl)
Paper Citation Count
45
Paper Publication Year
2017
Bio Mention
Denisovan genome, EGLN1, EGLN1 haplotype, EGLN1 prolyl hydroxylase, EPAS1, EPAS1 genotypes, EPAS1 haplotype, EPAS1 haplotypes, EPAS1 rs142764723, HIF, HIF-2, Hb, PHD2, PHD2 D4E, Tibetan, Tibetan-specific EGLN1 haplotype, c, hemoglobin, hypoxia-inducible factor, polycythemia, prolyl
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Author Name
Affiliation
Hao Hu
MD Anderson Cancer Center, University of Texas
Chad D Huff
MD Anderson Cancer Center, University of Texas
Victor R Gordeuk
University of Illinois at Chicago
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