Associated Papers
Dynamicasome-a molecular dynamics-guided and AI-driven pathogenicity prediction catalogue for all genetic mutations.
Islam NN et al.
Communications Biology, 2025
40624350 (PubMed )
Supplement: 42003_2025_8334_MOESM3_ESM.zip › PMM2-mutation-prediction-with-AI › Latest_AllModel_WithOutSide_Program_May10th_2024.xlsx › Sheet1
Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 Deficiency
Vurallı D et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).
Martínez-Monseny AF et al.
Annals of Neurology, 2019
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.
Serrano M et al.
Orphanet Journal of Rare Diseases, 2015
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
Vega AI et al.
Journal of Inherited Metabolic Disease, 2011
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