Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.E27D
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PMM2

NM_000303.3:p.E27D

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

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.

Francisco R et al.

Journal of Clinical Medicine, 2020

32635232 (PubMed )
Supplement: jcm-09-02092-s001.pdf
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