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

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 r...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878905/
https://www.ncbi.nlm.nih.gov/pubmed/33574263
http://dx.doi.org/10.1038/s41467-020-20877-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878905/
https://www.ncbi.nlm.nih.gov/pubmed/33574263
http://dx.doi.org/10.1038/s41467-020-20877-8

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