Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E139Q
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PMM2

NM_000303.3:p.E139Q

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

Diagnostic Approach to Cerebellar Hypoplasia.

Accogli A et al.

Cerebellum (london, England), 2021

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