Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.V227I
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F9

NM_000133.4:p.V227I

Associated Papers

F9 missense mutations impairing factor IX activation are associated with pleiotropic plasma phenotypes.

Branchini A et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Next-Generation Sequencing of 17 Genes Associated with Venous Thromboembolism Reveals a Deficit of Non-Synonymous Variants in Procoagulant Genes.

Manderstedt E et al.

Thrombosis and Haemostasis, 2019

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

Hemophilia B: molecular pathogenesis and mutation analysis.

Goodeve AC

Journal of Thrombosis and Haemostasis : Jth, 2015

25851415 (PubMed )
Supplement: JTH-13-1184-s001.docx
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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."