Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1341P
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VWF

NM_000552.5:p.R1341P

Associated Papers

Genetic variants, thrombocytopenia, and clinical phenotype of type 2B von Willebrand disease: a median 16-year follow-up study.

van Kwawegen CB et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.

Kreft IC et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

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

Atiq F et al.

Hemasphere, 2022

Von Willebrand Factor Multimer Densitometric Analysis: Validation of the Clinical Accuracy and Clinical Implications in Von Willebrand Disease.

Boender J et al.

Hemasphere, 2021

An update on type 2B von Willebrand disease.

Mikhail S et al.

Expert Review of Hematology, 2014

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A et al.

Acta Haematologica, 2009

Type 2B von Willebrand's disease due to Val1316Met mutation. Heterogeneity in the same sibship.

Rendal E et al.

Annals of Hematology, 2001

Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: new mutations, R1315C and R1341W, associated with type 2M and 2B variants.

Casaña P et al.

American Journal of Hematology, 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."