Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.L1580P
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VWF

NM_000552.5:p.L1580P

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

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Borràs N et al.

Haematologica, 2017

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Veyradier A et al.

Medicine, 2016

New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.

Casaña P et al.

Haematologica, 2001

Rapid genotypic diagnosis of type 2A von Willebrand's disease by heteroduplex analysis.

Culpan D et al.

Clinical and Laboratory Haematology, 1998

Molecular modeling of ligand and mutation sites of the type A domains of human von Willebrand factor and their relevance to von Willebrand's disease.

Jenkins PV et al.

Blood, 1998

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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."