Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.
MAN2A2 的纯合截断变异会导致一种新的先天性糖基化障碍，并伴有神经系统受累
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2022-108821
Mahajan Sonal, Ng Bobby George, AlAbdi Lama, Earnest Paul Daniel James, Sosicka Paulina, Patel Nisha, Helaby Rana, Abdulwahab Firdous, He Miao, Alkuraya Fowzan S, Freeze Hudson H
