Varaico: Literature-Extracted Genetic Variants

Gene:PMM2
Variant:p.I110S
Back to variants list

PMM2

NM_000303.3:p.I110S

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

Goal attainment in PMM2-CDG: A new approach measuring meaningful clinical outcomes.

Verberkmoes S et al.

Molecular Genetics and Metabolism, 2025

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.

De Graef D et al.

Molecular Genetics and Metabolism, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."