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Some products remain hard to find Awareness is inconsistent Too many categories can dilute focus There is also a perception gap

doi: 10.1172/JCI155724 17 StockwellBR

C.GonzalezS

Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency

The major hallmarks, as described by Pavlova and Thompson (7), include: deregulated glucose and amino acid uptake, opportunistic ways of acquiring nutrients, use of metabolic intermediates for biomass and nicotinamide adenine dinucleotide phosphate (NADPH) synthesis, increased demand for nitrogen, and alterations in metabolite-driven gene expression and interaction with the microenvironment (7, 9)