Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.L1288R
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VWF

NM_000552.5:p.L1288R

Associated Papers

Clinical phenotype and pathophysiological mechanisms underlying qualitative low VWF.

Atiq F et al.

Blood, 2025

Clinical utility of panel-based genetic sequencing for von Willebrand disease.

Ramanan R et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype.

Atiq F et al.

Hemasphere, 2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype: Reply to comment from Dr. Favaloro and to comment from Dr. Woods et al.

Maas DPMSM et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Maas DPMSM et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

34758185 (PubMed )
Supplement: JTH-20-316-s001.docx

Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Vangenechten I et al.

Research and Practice in Thrombosis and Haemostasis, 2020

32864553 (PubMed )
Supplement: RTH2-4-1024-s002.doc

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

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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."