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Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene

Creatine Transporter DeficiencyGenetic DisorderGeneticsPhysiologyInherited Metabolic DiseaseNovel Missense VariantsMolecular GeneticsSlc6a8 GeneMetabolismMedicineHuman MetabolismVariant InterpretationHealth Sciences