Varaico: Literature-Extracted Genetic Variants

Gene:F9
Variant:p.E54D
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F9

NM_000133.4:p.E54D

Associated Papers

F9 missense variant hot spots associated with qualitative protein defects causing hemophilia B.

van Duijl TT et al.

Blood Vessels, Thrombosis & Hemostasis, 2025

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_MOESM2_ESM.xlsx › Variants_used

Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations.

Guo ZP et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2014

Allelic heterogeneity of molecular events in human coagulation factor IX in Asian Indians. Mutation in brief #965. Online.

Mahajan A et al.

Human Mutation, 2007

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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."