دورية أكاديمية
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies
| العنوان: | P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies |
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| المؤلفون: | 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 |
| المصدر: | Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023) |
| بيانات النشر: | Elsevier, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Genetics LCC:Medicine |
| مصطلحات موضوعية: | Genetics, QH426-470, Medicine |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2949-7744 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2949774423004995; https://doaj.org/toc/2949-7744 |
| DOI: | 10.1016/j.gimo.2023.100499 |
| URL الوصول: | https://doaj.org/article/e75223815948439e9477ffcd46c3405b |
| رقم الأكسشن: | edsdoj.75223815948439e9477ffcd46c3405b |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 29497744 |
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| DOI: | 10.1016/j.gimo.2023.100499 |