Associated Papers
MAN2A2-related glycosylation defects in autism and cognitive delay.
Treccarichi S et al.
Scientific Reports, 2025
40628855 (PubMed )
Supplement: 41598_2025_9400_MOESM1_ESM.docx
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement.
Mahajan S et al.
Journal of Medical Genetics, 2023
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