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Urine Drug Screening: Minimizing False Positives and False Negatives to Optimize Patient Care Carnitine palmitoyltransferase II deficiency with a focus on newborn screening Journal of Human Genetics Propionylcarnitine an overview ScienceDirect Topics Functional genomics of OCTN2 variants informs protein specific variant effect predictor for Carnitine Transporter Deficiency PNAS
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