Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.S411G
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F9

NM_000133.4:p.S411G

Associated Papers

Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf

Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.

Huang L et al.

Molecular Genetics & Genomic Medicine, 2020

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

CRISPR/Cas9-mediated somatic and germline gene correction to restore hemostasis in hemophilia B mice.

Huai C et al.

Human Genetics, 2017

Risk factors associated with inhibitor development in Chinese patients with haemophilia B.

Zhou J et al.

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

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

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

Molecular basis of inherited diseases: a structural perspective.

Steward RE et al.

Trends in Genetics : Tig, 2003

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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."