Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits
Author: 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
Year Published: 2025
Media Outlet: Nature Genetics
Open Access? No
Matrix: Plasma and Serum, Urine
Biological Themes: Growth and Development, Skeletal muscle function
Product(s): Global Discovery Panel
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