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,Sander Pajusalu,Katarina Pelin,John Rendu,Matteo Vatta, Tom Winder, Hui Yang,Grace Yoon,Ozge Ceyhan-Birsoy,Carsten Bönnemann Genetics in Medicine Open（2023）
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variant sequence interpretation guidelines,congenital,acmg/amp
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