论文信息 - Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement - 字舞流文

Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement

H. Freeze | F. Alkuraya | M. He | P. Sosicka | N. Patel | F. Abdulwahab | Sonal Mahajan | Rana Helaby | B. Ng | Lama AlAbdi | Paul Daniel James Earnest