P452: Specifying the ACMG/AMP Variant Sequence Interpretation Guidelines for Congenital Myopathies*
Marina DiStefano, Ryan Webb,Hannah McCurry,Shannon McNulty Gray,Swati Tomar,Prasad Kopparapu,Eleanor Broeren, Kezang Tshering,Alan Beggs,Enrico Silvio Bertini,Adele D'Amico,Sandra Donkervoort,James Dowling,Fabiana Fattori,Ana Ferreiro,Casie Genetti,Hernan Gonorazky,Svetlana Gorokhova,Amanda Lindy,Livija Medne Genetics in medicine open（2023）
AI 理解论文
溯源树
样例
