Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B2
Variant:p.E790K
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MAN2B2

NM_015274.3:p.E790K

Associated Papers

Novel pathogenic MAN2B2 variants cause systemic lupus erythematosus and dysregulated glycosylation.

Gong C et al.

Clinical Immunology (orlando, Fla.), 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

Compound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation.

Tian Q et al.

European Journal of Human Genetics : Ejhg, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."