التفاصيل البيبلوغرافية
| العنوان: |
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 |
| المؤلفون: |
Divya Nair, Dong Li, Hannah Erdogan, Andrew Yoon, Margaret H. Harr, Gaber Bergant, Borut Peterlin, Maruša Škrjanec Pušenjak, Parul Jayakar, Rolph Pfundt, Sandra Jansen, Kirsty McWalter, Alpa Sidhu, Sheila Saliganan, Emanuele Agolini, Arthur Jacob, Jennifer Pasquier, Rafii Arash, Kimia Kahrizi, Hossein Najmabadi, Hans-Hilger Ropers, Elizabeth J. Bhoj |
| المصدر: |
HGG Advances, Vol 3, Iss 4, Pp 100122- (2022) |
| بيانات النشر: |
Elsevier |
| سنة النشر: |
2022 |
| المجموعة: |
Directory of Open Access Journals: DOAJ Articles |
| مصطلحات موضوعية: |
Genetics, QH426-470 |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| تدمد: |
2666-2477 |
| العلاقة: |
http://www.sciencedirect.com/science/article/pii/S2666247722000380Test; https://doaj.org/toc/2666-2477Test; https://doaj.org/article/2933846d32ba4a2faa49561ba57d523cTest |
| DOI: |
10.1016/j.xhgg.2022.100122 |
| الإتاحة: |
https://doi.org/10.1016/j.xhgg.2022.100122Test
https://doaj.org/article/2933846d32ba4a2faa49561ba57d523cTest |
| رقم الانضمام: |
edsbas.C013C38F |
| قاعدة البيانات: |
BASE |
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