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Identification of Four Novel Mutations in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency

Mendelian DisorderCpt IiGenetic DisorderMedicineGeneticsInherited Metabolic DiseasePathologyMolecular BiologyMolecular GeneticsDisease Gene IdentificationGenomicsFour Novel MutationsCarnitine Palmitoyltransferase IiMolecular DiagnosticsVariant InterpretationClinical Genetics