Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.R740*
Back to variants list

F5

NM_000130.5:p.R740*

Associated Papers

Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf

Development and Characterization of a Factor V-Deficient CRISPR Cell Model for the Correction of Mutations.

Serrano LJ et al.

International Journal of Molecular Sciences, 2022

High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.

Bernal S et al.

International Journal of Molecular Sciences, 2021

Profiling the mutational landscape of coagulation factor V deficiency.

Paraboschi EM et al.

Haematologica, 2020

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."