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Paper Details

Homozygous truncating variant in <i>MAN2A2</i> causes a novel congenital disorder of glycosylation with neurological involvement.
J Med Genet
2
2023
-, CDG, Golgi mannosidase, Lymphoblasts, MAN2A1, MAN2A1 variants, MAN2A1/MAN2A2 double knock out HEK293 cell lines, MAN2A2, MAN2A2 variants, N, Val1101Ter, autosomal recessive CDG, congenital disorder of glycosylation, congenital disorders of glycosylation, derived lymphoblasts, facial dysmorphism, glycosylation defects, neurological involvement, patient, patient-, transcript
Author NameAffiliation
Bobby G NgSanford Burnham Prebys Medical Discovery Institute
Paulina SosickaSanford Burnham Prebys Medical Discovery Institute
Miao HeThe Children's Hospital of Philadelphia
Fowzan S AlkurayaKing Faisal Specialist Hospital and Research Center
Hudson H FreezeSanford Burnham Prebys Medical Discovery Institute
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