Associated Papers
Hybridization capture long-read sequencing and de novo assembly of homologous haplotypes: a comprehensive hemophilia test.
Liu B et al.
Blood Advances, 2025
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_MOESM2_ESM.xlsx › Training_Set
In silico and in vitro evaluation of the impact of mutations in non-severe haemophilia A patients on assay discrepancies.
Pezeshkpoor B et al.
Annals of Hematology, 2019
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
Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A.
Bogdanova N et al.
Human Mutation, 2007
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