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收藏STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
Zaharieva, Irina T.; Sarkozy, Anna; Munot, Pinki; Manzur, Adnan; O'Grady, Gina; Rendu, John; Malfatti, Eduardo; Amthor, Helge; Servais, Laurent; Urtizberea, J. Andoni; Abath Neto, Osorio; Zanoteli, Edmar; Donkervoort, Sandra; Taylor, Juliet; Dixon, Joanne; Poke, Gemma; Foley, A. Reghan; Holmes, Chris; Williams, Glyn; Holder, Muriel; Yum, Sabrina; Medne, Livija; Quijano-Roy, Susana; Romero, Norma B.; Faure, Julien; Feng, Lucy; Bastaki, Laila; Davis, Mark R.; Phadke, Rahul; Sewry, Caroline A.; Bonnemann, Carsten G.; Jungbluth, Heinz; Bachmann, Christoph; Treves, Susan; Muntoni, Francesco
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