ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
ClinGen变异注释专家组关于GAMT、GATM和SLC6A8变异分类在脑肌酸缺乏综合征中的应用建议
期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2024.108362
Goldstein, Jennifer; Thomas-Wilson, Amanda; Groopman, Emily; Aggarwal, Vimla; Bianconi, Simona; Fernandez, Raquel; Hart, Kim; Longo, Nicola; Liang, Nicole; Reich, Daniel; Wallis, Heidi; Weaver, Meredith; Young, Sarah; Mercimek-Andrews, Saadet