Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
Nair D, Li D, Erdogan H, Yoon A, Harr MH, Bergant G, Peterlin B, Škrjanec Pušenjak M, Jayakar P, Pfundt R, Jansen S, McWalter K, Sidhu A, Saliganan S, Agolini E, Jacob A, Pasquier J, Arash R, Kahrizi K, Najmabadi H, Ropers HH, Bhoj EJ.
Nair D, et al.
HGG Adv. 2021 Jan 21;2(2):100024. doi: 10.1016/j.xhgg.2021.100024. eCollection 2021 Apr 8.
HGG Adv. 2021.
PMID: 35047834
Free PMC article.
ASCC3 encodes a DNA helicase responsible for generating single-stranded DNA as part of the DNA damage response. ...In summary we report a syndrome in these eleven individuals from seven families with biallelic variants in ASCC3....
ASCC3 encodes a DNA helicase responsible for generating single-stranded DNA as part of the DNA damage response. ...In summary we repo …