Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.N1971T
Back to variants list

F8

NM_000132.4:p.N1971T

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_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

Factor VIII gene (F8) mutations as predictors of outcome in immune tolerance induction of hemophilia A patients with high-responding inhibitors.

Coppola A et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

Immune tolerance induction with recombinant factor VIII in hemophilia A patients with high responding inhibitors.

Rocino A et al.

Haematologica, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."