Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.D131Splc
Back to variants list

F9

NM_000133.4:p.D131Splc

Associated Papers

Factor IX antibodies and tolerance in hemophilia B in the Nordic countries - The impact of F9 variants and complications.

Kihlberg K et al.

Thrombosis Research, 2022

Mutation analysis of a cohort of US patients with hemophilia B.

Li T et al.

American Journal of Hematology, 2014

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Caminsky N et al.

F1000research, 2014

25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_9._Validated_Variantsv2.xlsx › Supplementary_Table_9

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."