Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.C382Y
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F9

NM_000133.4:p.C382Y

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

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

Usual and unusual mutations in a cohort of Belgian patients with hemophilia B.

Lannoy N et al.

Thrombosis Research, 2017

[Mutational Analysis of Hemophilia B in Russia: Molecular-Genetic Study].

Surin VL et al.

Genetika, 2016

Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

Radic CP et al.

Thrombosis and Haemostasis, 2013

Analysis of F9 point mutations and their correlation to severity of haemophilia B disease.

Hamasaki-Katagiri N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

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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."