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

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

Metabolites are indicators of health and disease; genetic studies can reveal variants influencing their levels. Here, the authors investigate the contribution of rare, exonic variants on the levels of urine metabolites and generate predictions on metabolic consequences underlying metabolic disease.

Bibliographic Details
Main Authors: Yurong Cheng, Pascal Schlosser, Johannes Hertel, Peggy Sekula, Peter J. Oefner, Ute Spiekerkoetter, Johanna Mielke, Daniel F. Freitag, Miriam Schmidts, GCKD Investigators, Florian Kronenberg, Kai-Uwe Eckardt, Ines Thiele, Yong Li, Anna Köttgen
Format: Article
Language:English
Published: Nature Publishing Group 2021-02-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-020-20877-8

Internet

https://doi.org/10.1038/s41467-020-20877-8

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