Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.G58R
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F9

NM_000133.4:p.G58R

Associated Papers

A Machine Learning Framework Predicts the Clinical Severity of Hemophilia B Caused by Point-Mutations.

Lopes TJS et al.

Frontiers in Bioinformatics, 2022

36304295 (PubMed )
Supplement: DataSheet1.zip › Supplementary_Table_5_-_Disambiguate.xlsx › Predictions

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

An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.

Rallapalli PM et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B.

Kwon MJ et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

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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."