Associated Papers
Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP.
Popp NA et al.
Nature Structural & Molecular Biology, 2025
Use of Oral Anti-Xa Inhibitor in Prosthetic Mechanical Aortic Valve with Warfarin Hypersensitivity Due to the FIX p.(Ala37Thr) Propeptide Variant: Case Report and Literature Review.
Tufano A et al.
Seminars in Thrombosis and Hemostasis, 2025
Multiplex, multimodal mapping of variant effects in secreted proteins.
Popp NA et al.
Biorxiv : the Preprint Server for Biology, 2025
The Molecular Basis of FIX Deficiency in Hemophilia B.
Shen G et al.
International Journal of Molecular Sciences, 2022
Factor IX p.A37V mutation causes severe bleeding in a patient with phenprocoumon therapy.
Mülling N et al.
European Journal of Medical Research, 2021
Characterization of missense mutations in the signal peptide and propeptide of FIX in hemophilia B by a cell-based assay.
Gao W et al.
Blood Advances, 2020
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
Severe bleeding due to hypersensitivity to vitamin K antagonist caused by the c.109G>A (p.Ala37Thr) mutation in the F9 gene in a patient with mechanical heart valve prosthesis.
Odnoczko E et al.
Thrombosis Research, 2019
Major bleeding in a patient with warfarin-hypersensitive and factor IX propeptide variant, p.Ala37Thr, who was treated with a direct oral anti-Xa inhibitor.
Tamura A et al.
Annals of Hematology, 2019
Variants in FIX propeptide associated with vitamin K antagonist hypersensitivity: functional analysis and additional data confirming the common founder mutations.
Pezeshkpoor B et al.
Annals of Hematology, 2018
The CDC Hemophilia B mutation project mutation list: a new online resource.
Li T et al.
Molecular Genetics & Genomic Medicine, 2013
24498619 (PubMed )
Supplement: mgg30001-0238-SD1.xlsx › CHBMP_Mutation_List
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