Signatures of TSPAN8 variants associated with human metabolic regulation and diseases

Summary: Here, with the example of common copy number variation (CNV) in the TSPAN8 gene, we present an important piece of work in the field of CNV detection, that is, CNV association with complex human traits such as 1H NMR metabolomic phenotypes and an example of functional characterization of CNV...

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Bibliographic Details
Main Authors: Tisham De, Angela Goncalves, Doug Speed, Philippe Froguel, Daniel J. Gaffney, Michael R. Johnson, Marjo-Riitta Jarvelin, Lachlan JM. Coin
Format: Article
Language:English
Published: Elsevier 2021-08-01
Series:iScience
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004221008610