Article

Integrated multi-omics reveals anaplerotic insufficiency in methylmalonyl-CoA mutase deficiency

2022-01-29

Abstract excerpt

Multi-layered omics approaches can help define relationships between genetic factors, biochemical processes and phenotypes thus extending research of inherited diseases beyond identifying their monogenic cause 1 . We implemented a multi-layered omics approach for the inherited metabolic disorder methylmalonic aciduria (MMA). We performed whole genome sequencing, transcriptomic sequencing, and mass spectrometry-ba...

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Literature Corpus work: 3cc84a0e-84fc-59f7-8937-2adf455b1058
DOI: 10.1101/2022.01.27.22269972

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