Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.K168R
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PMM2

NM_000303.3:p.K168R

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

Phosphomannomutase 2-congenital disorder of glycosylation presenting with very early onset inflammatory bowel disease.

Comert M et al.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."