Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.A1317A
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VWF

NM_000552.5:p.A1317A

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

Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia.

Lago J et al.

Genes, 2021

Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Kasatkar P et al.

Plos One, 2014

The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England.

Sutherland MS et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2009

Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.

Chuzhanova N et al.

Human Mutation, 2009

Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene.

Corrales I et al.

Thrombosis and Haemostasis, 2009

Gene conversions are a common cause of von Willebrand disease.

Gupta PK et al.

British Journal of Haematology, 2005

Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.

Gupta PK et al.

Blood Cells, Molecules & Diseases, 0

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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."