Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.W240R
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F9

NM_000133.4:p.W240R

Associated Papers

Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.

Bach KQ et al.

Journal of Blood Medicine, 2025

Pleiotropic effects of different exonic nucleotide changes at the same position contribute to hemophilia B phenotypic variation.

Zhang H et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

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

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.

Branchini A et al.

Blood, 2017

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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."