Associated Papers
Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Wu J et al.
Peerj, 2023
37547722 (PubMed )
Supplement: peerj-11-15702-s004.xlsx › Table_S2
Prediction of hemophilia A severity using a small-input machine-learning framework.
Lopes TJS et al.
Npj Systems Biology and Applications, 2021
34035274 (PubMed )
Supplement: 41540_2021_183_MOESM3_ESM.xlsx › Predictions___Clinical_reports
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Marín Ò et al.
Scientific Reports, 2019
31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM2_ESM.xlsx › Variants_used
Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.
Guillet B et al.
Human Mutation, 2006
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