Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.A108P
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PMM2

NM_000303.3:p.A108P

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 PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.

Lebredonchel E et al.

Italian Journal of Pediatrics, 2022

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