Varaico: Literature-Extracted Genetic Variants

Gene:F8
Variant:p.A1798S
Back to variants list

F8

NM_000132.4:p.A1798S

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

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

Wei W et al.

The Biochemical Journal, 2018

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

Bogdanova N et al.

Human Mutation, 2007

Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.

Guillet B et al.

Human Mutation, 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."