Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3

Summary: Activating Signal Cointegrator 1 Complex, Subunit 3 (ASCC3) is part of the four-part ASC-1 transcriptional cointegrator complex. This complex includes ASCC1 (associated with spinal muscular atrophy with congenital bone fractures 2), TRIP4 (associated with spinal muscular atrophy with congen...

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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 2021-04-01
Series:HGG Advances
Subjects:
Activating Signal Cointegrator 1 Complex
Subunit 3
ASCC3
neurogenetics
neuromuscular
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247721000051

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http://www.sciencedirect.com/science/article/pii/S2666247721000051

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