Associated Papers
F9 missense variant hot spots associated with qualitative protein defects causing hemophilia B.
van Duijl TT et al.
Blood Vessels, Thrombosis & Hemostasis, 2025
A Machine Learning Framework Predicts the Clinical Severity of Hemophilia B Caused by Point-Mutations.
Lopes TJS et al.
Frontiers in Bioinformatics, 2022
36304295 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_5_-_Disambiguate.xlsx › Predictions
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.
Katneni UK et al.
Molecular Genetics & Genomic Medicine, 2019
31257730 (PubMed )
Supplement: MGG3-7-e840-s002.xls › F9_Splicing_Data
An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.
Balestra D et al.
Frontiers in Genetics, 2019
Inherited factor VII deficiency: identification of two novel mutations (A191V and T239P) in the catalytic domain.
Borensztajn K et al.
Thrombosis Research, 2005
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