Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking
COG3基因的双等位基因错义变异会导致先天性糖基化障碍，并伴有逆行囊泡运输受损。
期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12679
Duan, Ruizhi; Marafi, Dana; Xia, Zhi-Jie; Ng, Bobby G; Maroofian, Reza; Sumya, Farhana Taher; Saad, Ahmed K; Du, Haowei; Fatih, Jawid M; Hunter, Jill V; Elbendary, Hasnaa M; Baig, Shahid M; Abdullah, Uzma; Ali, Zafar; Efthymiou, Stephanie; Murphy, David; Mitani, Tadahiro; Withers, Marjorie A; Jhangiani, Shalini N; Coban-Akdemir, Zeynep; Calame, Daniel G; Pehlivan, Davut; Gibbs, Richard A; Posey, Jennifer E; Houlden, Henry; Lupashin, Vladimir V; Zaki, Maha S; Freeze, Hudson H; Lupski, James R
