ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
Article in Molecular Genetics and Metabolism (March 2024)
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Article in Molecular Genetics and Metabolism (March 2024)
Article in Practical Neurology (February 2024)
Preprint in bioRxiv (January 2024)