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The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

Mendelian DisorderMissense VariationsGenetic DisorderMedicineGeneticsInherited Metabolic DiseaseNatural SciencesMolecular BiologyMolecular GeneticsDisease Gene IdentificationGenomicsGene ExpressionCellular LevelShort-chain Acyl-coa DehydrogenaseVariant Interpretation