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)
The most recent citing publications are shown below. View all 36 publications that cite this research output on Dimensions.
Article in Molecular Genetics and Metabolism (March 2024)
Preprint in medRxiv (January 2024)
Book chapter (October 2023)