Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1308P
Back to variants list

VWF

NM_000552.5:p.R1308P

Associated Papers

Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.

Yadegari H et al.

Thrombosis and Haemostasis, 2026

Familial thrombocytopenia and platelet clumping: Clues to the diagnosis of type 2B von Willebrand disease.

Tang C et al.

Pediatric Blood & Cancer, 2023

Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.

Interlandi G et al.

The Journal of Biological Chemistry, 2017

Type 2M and Type 2A von Willebrand Disease: Similar but Different.

Favaloro EJ et al.

Seminars in Thrombosis and Hemostasis, 2016

A family having type 2B von Willebrand disease with a novel VWF p.R1308S mutation: Detection of characteristic platelet aggregates on peripheral blood smears as the key aspect of diagnosis.

Hatta K et al.

Thrombosis Research, 2015

An update on type 2B von Willebrand disease.

Mikhail S et al.

Expert Review of Hematology, 2014

Advances in our understanding of the molecular basis of disorders of platelet function.

Nurden A et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

Altered megakaryocytopoiesis in von Willebrand type 2B disease.

Nurden AT et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Torres R et al.

Clinics in Laboratory Medicine, 2009

The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation.

Jackson SC et al.

Blood, 2009

Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.

Federici AB et al.

Blood, 2009

Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow.

Slayton WB et al.

Journal of Pediatric Hematology/oncology, 2008

Effect of von Willebrand disease type 2B and type 2M mutations on the susceptibility of von Willebrand factor to ADAMTS-13.

Rayes J et al.

Journal of Thrombosis and Haemostasis : Jth, 2007

Management of inherited von Willebrand disease in 2007.

Federici AB et al.

Annals of Medicine, 2007

Impaired megakaryocytopoiesis in type 2B von Willebrand disease with severe thrombocytopenia.

Nurden P et al.

Blood, 2006

Molecular genetics of type 2 von Willebrand disease.

Fressinaud E et al.

International Journal of Hematology, 2002

Molecular genetics of von Willebrand disease.

Mazurier C et al.

Annales De Genetique, 1998

Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations.

Melo-Nava BM et al.

Blood Cells, Molecules & Diseases, 0

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."