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1 Ergebnisse
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P452: Specifying the ACMG/AMP variant sequence interpretati..:
DiStefano, Marina
;
Webb, Ryan
;
McCurry, Hannah
...
Genetics in Medicine Open. 1 (2023) 1 - p. 100499 , 2023
Link:
https://doi.org/10.1016/j.gimo.2023.100499
RT Journal T1
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2023.100499&Exemplar=1&LAN=DE A1 DiStefano, Marina A1 Webb, Ryan A1 McCurry, Hannah A1 McNulty Gray, Shannon A1 Tomar, Swati A1 Kopparapu, Prasad A1 Broeren, Eleanor A1 Tshering, Kezang A1 Beggs, Alan A1 Bertini, Enrico Silvio A1 D'Amico, Adele A1 Donkervoort, Sandra A1 Dowling, James A1 Fattori, Fabiana A1 Ferreiro, Ana A1 Genetti, Casie A1 Gonorazky, Hernan A1 Gorokhova, Svetlana A1 Lindy, Amanda A1 Medne, Livija A1 Pajusalu, Sander A1 Pelin, Katarina A1 Rendu, John A1 Vatta, Matteo A1 Winder, Tom A1 Yang, Hui A1 Yoon, Grace A1 Ceyhan-Birsoy, Ozge A1 Bönnemann, Carsten PB Elsevier BV YR 2023 SN 2949-7744 JF Genetics in Medicine Open VO 1 IS 1 SP 100499 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2023.100499 DO https://doi.org/10.1016/j.gimo.2023.100499 SF ELIB - SuUB Bremen
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