Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

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Bibliographic Details
Main Authors:	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
Format:	Article
Language:	English
Published:	Elsevier 2022-10-01
Series:	HGG Advances
Online Access:	http://www.sciencedirect.com/science/article/pii/S2666247722000380

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