Article

Signatures Of Tspan8 Variants Associated With Human Metabolic Regulation And Diseases

2020-11-19

Abstract excerpt

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, CNV association with complex human traits such as 1 H NMR metabolomic phenotypes and an example of functional characterization of CNVs among human induced pluripotent stem cells (HipSci). We report TSPAN8 exon 11 as a new locus associated with metabolomic regulation...

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Literature Corpus work: e265ad6e-df0d-51da-a065-3714b44918fc
DOI: 10.1101/2020.11.17.386839

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