학술논문
Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism
Document Type
article
Author
Source
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Subject
Language
English
ISSN
2041-1723
Abstract
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.