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Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseMissense Mutation Leu72proMolecular BiologyPathologyMolecular GeneticsDisease Gene IdentificationMolecular MedicineMedicineVariant InterpretationClinical Genetics