학술논문
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking
Document Type
Article
Author
Duan, R.; Marafi, D.; Saad, A.K.; Du, H.; Fatih, J.M.; Mitani, T.; Withers, M.A.; Coban-Akdemir, Z.; Calame, D.G.; Pehlivan, D.; Gibbs, R.A.; Posey, J.E.; Lupski, J.R.; Xia, Z.-J.; Ng, B.G.; Freeze, H.H.; Maroofian, R.; Efthymiou, S.; Houlden, H.; Sumya, F.T.; Lupashin, V.V.; Hunter, J.V.; Elbendary, H.M.; Zaki, M.S.; Baig, S.M.; Abdullah, U.; Ali, Z.; Murphy, D.; Jhangiani, S.N.
Source
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, November 2023, 46(6):1195-1205)
Subject
Language
English
ISSN
15732665
01418955
01418955