Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.A1798T
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F8

NM_000132.4:p.A1798T

Associated Papers

Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing.

Liu Y et al.

Thrombosis and Haemostasis, 2023

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_MOESM3_ESM.xlsx › Predictions___Clinical_reports

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

Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII.

Wei W et al.

The Biochemical Journal, 2018

Identification of ten novel mutations in factor VIII gene: A study of a cohort of 52 haemophilia A patients.

Santacroce R et al.

Thrombosis Research, 2015

Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A.

Ravanbod S 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."