Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

Specialty Areas:
Date: June 22, 2023
Authors:
Alpa Sidhu, Andrew Yoon, Arthur Jacob, Borut Peterlin, Divya Nair, Dong Li, Elizabeth J. Bhoj, Emanuele Agolini, Gaber Bergant, Hannah Erdogan, Hans-Hilger Ropers, Hossein Najmabadi, Jennifer Pasquier, Kimia Kahrizi, Kirsty McWalter, Margaret H Harr, Maruša Škrjanec Pušenjak, Parul Jayakar, Rafii Arash, Rolph Pfundt, Sandra Jansen, Sheila Saliganan
Journal: HGG Advances
Journal Volume: 2