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
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Segovia-Falquina C et al.
Human Mutation, 2022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.
Park S et al.
Frontiers in Genetics, 2022
HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation.
Vilas A et al.
Molecular Genetics and Metabolism, 0
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