Classification of the Molecular Defects Associated with Pathogenic Variants of the [electronic resource]
Producer: 20201110Description: 1367-1377 p. digitalISSN:- 1520-4995
- Brain Diseases, Metabolic, Inborn -- genetics
- Creatine -- deficiency
- HEK293 Cells
- Humans
- Membrane Transport Proteins -- chemistry
- X-Linked Intellectual Disability -- genetics
- Mutation, Missense
- Nerve Tissue Proteins -- chemistry
- Phenylbutyrates -- metabolism
- Plasma Membrane Neurotransmitter Transport Proteins -- chemistry
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Publication Type: Journal Article
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