ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
Jennifer Goldstein, Amanda Thomas‐Wilson, Emily Groopman, Vimla S. Aggarwal, Simona Bianconi, Raquel Fernandez, Kim Hart, Nicola Longo, Nicole Liang, Daniel S. Reich, Heidi Wallis, Meredith Weaver, Sarah Young, Saadet Mercimek‐Andrews
Topics & Concepts
CreatineInborn error of metabolismGeneticsPhenotypeBiologyMissense mutationComputational biologyBioinformaticsGeneEndocrinologyBiochemical and Molecular ResearchMuscle metabolism and nutritionGenomics and Rare Diseases