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Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

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Cheng, Yurong ; Schlosser, Pascal ; Hertel, Johannes ; Sekula, Peggy ; Oefner, Peter J. ; Spiekerkoetter, Ute ; Mielke, Johanna ; Freitag, Daniel F. ; Schmidts, Miriam ; Kronenberg, Florian ; Eckardt, Kai-Uwe ; Thiele, Ines ; Li, Yong ; Köttgen, Anna
License: Creative Commons Attribution 4.0
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Date of publication of this fulltext: 24 Mar 2021 11:26


Metabolite levels in urine may provide insights into genetic mechanisms shaping their related pathways. We therefore investigate the cumulative contribution of rare, exonic genetic variants on urine levels of 1487 metabolites and 53,714 metabolite ratios among 4864 GCKD study participants. Here we report the detection of 128 significant associations involving 30 unique genes, 16 of which are ...


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