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Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients

Metabolic SyndromeMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseNovel Exon-skipping VariantMolecular GeneticsDisease Gene IdentificationBasic DomainSystems BiologyMedicineVariant Interpretation