Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.K444N
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F8

NM_000132.4:p.K444N

Associated Papers

Prediction of hemophilia A severity using a small-input machine-learning framework.

Lopes TJS et al.

Npj Systems Biology and Applications, 2021

34035274 (PubMed )
Supplement: 41540_2021_183_MOESM2_ESM.xlsx › Training_Set

Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan.

Shinozawa K et al.

Thrombosis and Haemostasis, 2021

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

Importance of investigating somatic and germline mutations in hemophilia A: a preliminary study from All India Institute of Medical Sciences, India.

Ranjan R et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.

Bogdanova N et al.

Human Mutation, 2005

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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."