Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.R46K
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F9

NM_000133.4:p.R46K

Associated Papers

Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.

Bach KQ et al.

Journal of Blood Medicine, 2025

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

Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.

Balestra D et al.

Human Molecular Genetics, 2015

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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