ClinGen Variant Curation Expert Panel Recommendations for Classification of Variants in GAMT, GATM and SLC6A8 for Cerebral Creatine Deficiency Syndromes
MOLECULAR GENETICS AND METABOLISM（2024）
关键词
Cerebral creatine deficiency syndromes,Creatine,Guanidinoacetate,Brain magnetic resonance spectroscopy,GAMT,GATM,ACMG/AMP
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