Discovery of a neuromuscular syndrome caused by biallelic variants in
ASCC3
Activating Signal Cointegrator 1 Complex
Subunit 3
neurogenetics
neuromuscular
Journal
HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885
Informations de publication
Date de publication:
08 Apr 2021
08 Apr 2021
Historique:
received:
14
09
2020
accepted:
13
01
2021
entrez:
20
1
2022
pubmed:
21
1
2022
medline:
21
1
2022
Statut:
epublish
Résumé
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 congenital bone fractures 1), and ASCC2 (not yet associated with human disease.)
Identifiants
pubmed: 35047834
doi: 10.1016/j.xhgg.2021.100024
pii: S2666-2477(21)00005-1
pmc: PMC8756546
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100024Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2021 The Author(s).
Déclaration de conflit d'intérêts
The authors declare no competing interests.
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