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Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation

To validate our refinement protocol, we used phenix.mtriage 50 to calculate FSC curves of our models against the full map and half maps 53 (Supplementary Fig

Changes in lipid and lipoprotein metabolism were not detected in cardiac MTs using DEGs, but similar effects of DMSO were observed for citric acid cycle and respiratory electron transport (q-value: 1.3 * 10 12 , 58 DEGs out of 171 genes, 65.5% downregulated) and glucose metabolism (q-value: 2.8 * 10 3 , 20 DEGs out of 77 genes, 55.0% downregulated), though less genes were downregulated in cardiac MTs compared to hepatic MTs