Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.C69R
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F9

NM_000133.4:p.C69R

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

Genetic causes of haemophilia in women and girls.

Miller CH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

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

The characteristics and spectrum of F9 mutations in Chinese sporadic haemophilia B pedigrees.

Lu Y et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

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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."