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Article

Metabolites downstream of predicted loss-of-function variants inform relationship to disease.

Molecular genetics and metabolism - 1 Dec 2019

Li Mengbo, Wang Andy, Quek Lake-Ee, Vernon Stephen, Figtree Gemma A, Yang Jean, O'Sullivan John F

Abstract excerpt

A small minority (< 3%) of protein-coding genetic variants are predicted to lead to loss of protein function. However, these predicted loss-of-function (pLOF) variants can provide insight into mode of transcriptional effect. To examine how these changes are propagated to phenotype, we determined associations with downstream metabolites. We performed association analyses of 37 pLOF variants - previously reported...

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PMID: 31679996
DOI: 10.1016/j.ymgme.2019.10.002

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