Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.Q237K
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F9

NM_000133.4:p.Q237K

Associated Papers

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

31257730 (PubMed )
Supplement: MGG3-7-e840-s002.xls › F9_Splicing_Data

Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.

Marín Ò et al.

Scientific Reports, 2019

31267011 (PubMed )
Supplement: 41598_2019_45916_MOESM3_ESM.xlsx › Sheet1

Hemophilia B: molecular pathogenesis and mutation analysis.

Goodeve AC

Journal of Thrombosis and Haemostasis : Jth, 2015

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

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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."