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

URN to cite this document:
urn:nbn:de:bvb:355-epub-452914
DOI to cite this document:
10.5283/epub.45291
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
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Date of publication of this fulltext: 24 Mar 2021 11:26


Abstract

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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