Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.Q241H
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F9

NM_000133.4:p.Q241H

Associated Papers

Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP.

Popp NA et al.

Nature Structural & Molecular Biology, 2025

Multiplex, multimodal mapping of variant effects in secreted proteins.

Popp NA et al.

Biorxiv : the Preprint Server for Biology, 2025

Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.

Agrawal N et al.

International Journal of Laboratory Hematology, 2022

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants.

Katneni UK et al.

Molecular Genetics & Genomic Medicine, 2019

Hemophilia B: molecular pathogenesis and mutation analysis.

Goodeve AC

Journal of Thrombosis and Haemostasis : Jth, 2015

Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B.

Saini S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

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."