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

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Authors: Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J. Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F. Freitag, Miriam Schmidts, Florian Kronenberg, Kai-Uwe Eckardt, Ines Thiele, Yong Li, Anna Köttgen

Journal title: Nature Communications

Journal number: 12/1

Journal publisher: Nature Publishing Group

Published year: 2021

DOI identifier: 10.1038/s41467-020-20877-8

ISSN: 2041-1723