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Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology

Variants were analyzed according to best practice guidelines for the evaluation of pathogenicity and the reporting of sequence variants in clinical molecular genetics (2020, Association for Clinical Genomic Science, Confirmation of clinically significant sequence variants by Sanger sequencing was performed as necessary

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[DOI] [PMC free article] [PubMed] [Google Scholar] 29.Jin R.C., Mahoney C.E., Anderson L., Ottaviano F., Croce K., Leopold J.A., Zhang Y.-Y., Tang S.-S., Handy D.E., Loscalzo J., et al