Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.A317T
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F9

NM_000133.4:p.A317T

Associated Papers

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

Successful treatment of an injury bleeding on a patient suffering from mild von Willebrand's disease and predisposition to allergic diseases, with recombinant factor VIIA.

Alesci S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011

Identification of novel and recurrent mutations in Tunisian haemophilia B patients.

Elmahmoudi H et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2011

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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."