학술논문
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*
Document Type
Abstract
Author
DiStefano, Marina; Webb, Ryan; McCurry, Hannah; McNulty Gray, Shannon; Tomar, Swati; Kopparapu, Prasad; Broeren, Eleanor; Tshering, Kezang; Beggs, Alan; Bertini, Enrico Silvio; D'Amico, Adele; Donkervoort, Sandra; Dowling, James; Fattori, Fabiana; Ferreiro, Ana; Genetti, Casie; Gonorazky, Hernan; Gorokhova, Svetlana; Lindy, Amanda; Medne, Livija; Pajusalu, Sander; Pelin, Katarina; Rendu, John; Vatta, Matteo; Winder, Tom; Yang, Hui; Yoon, Grace; Ceyhan-Birsoy, Ozge; Bönnemann, Carsten
Source
In Genetics in Medicine Open 2023 1(1) Supplement
Subject
Language
ISSN
2949-7744