Associated Papers
Novel pathogenic MAN2B2 variants cause systemic lupus erythematosus and dysregulated glycosylation.
Gong C et al.
Clinical Immunology (orlando, Fla.), 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.
Fan S et al.
Molecular Genetics & Genomic Medicine, 2024
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
Yigit G et al.
Journal of Medical Genetics, 2022
34172529 (PubMed )
Supplement: jmedgenet-2021-107769supp001.pdf
Defining a new immune deficiency syndrome: MAN2B2-CDG.
Verheijen J et al.
The Journal of Allergy and Clinical Immunology, 2020
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