Coupling Metabolomics and Exome Sequencing Reveals Graded Effects of Rare Damaging Heterozygous Variants on Gene Function and Human Traits
Nora Scherer,Daniel Fässler,Oleg Borisov,Yurong Cheng,Pascal Schlosser,Matthias Wuttke,Stefan Haug,Yong Li, Fabian Telkämper,Suraj Patil,Heike Meiselbach, Casper Wong,Urs Berger,Peggy Sekula,Anselm Hoppmann,Ulla T. Schultheiss, Sahar Mozaffari, Yannan Xi,Robert Graham,Miriam Schmidts,Michael Köttgen,Peter J. Oefner,Felix Knauf,Kai-Uwe Eckardt,Sarah C. Grünert, Karol Estrada,Ines Thiele,Johannes Hertel,Anna Köttgen Nature Genetics（2025）
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Inborn Errors of Metabolism,Metabolomics,Human Metabolome Database,Pharmacometabolomics
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