Varaico: Literature-Extracted Genetic Variants

Gene:ALG2
Variant:p.P322T
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ALG2

NM_033087.4:p.P322T

Associated Papers

Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker.

Martínez Duncker I et al.

Frontiers in Genetics, 2024

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