Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.P1467S
Back to variants list

VWF

NM_000552.5:p.P1467S

Associated Papers

Von Willebrand factor is a multifaceted player in hemostasis requiring a diverse array of analytical and diagnostic approaches.

Depasse F et al.

Expert Review of Hematology, 2025

Structure-resolved dynamics of type 2M von Willebrand disease.

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Challenges and considerations of genetic testing in von Willebrand disease.

Seidizadeh O et al.

Research and Practice in Thrombosis and Haemostasis, 2025

von Willebrand factor binds to angiopoietin-2 within endothelial cells and after release from Weibel-Palade bodies.

Mobayen G et al.

Journal of Thrombosis and Haemostasis : Jth, 2023

Obstacles to Early Diagnosis and Treatment of Inherited von Willebrand Disease: Current Perspectives.

Castaman G et al.

Journal of Blood Medicine, 2021

New developments in von Willebrand disease.

Fogarty H et al.

British Journal of Haematology, 2020

Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.

Szederjesi A et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

Glycosylation sterically inhibits platelet adhesion to von Willebrand factor without altering intrinsic conformational dynamics.

Tischer A et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

The role of genetics in the pathogenesis and diagnosis of type 1 Von Willebrand disease.

Flood VH et al.

Current Opinion in Hematology, 2019

von Willebrand factor/ADAMTS-13 interactions at birth: implications for thrombosis in the neonatal period.

Katneni UK et al.

Journal of Thrombosis and Haemostasis : Jth, 2019

An international collaborative study to compare different von Willebrand factor glycoprotein Ib binding activity assays: the COMPASS-VWF study.

Szederjesi A et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Current approaches to diagnostic testing in von Willebrand Disease.

Rao ES et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2018

Technological advances in diagnostic testing for von Willebrand disease: new approaches and challenges.

Hayward CP et al.

International Journal of Laboratory Hematology, 2014

Gain-of-function GPIb ELISA assay for VWF activity in the Zimmerman Program for the Molecular and Clinical Biology of VWD.

Flood VH et al.

Blood, 2011

Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor.

Flood VH et al.

Blood, 2010

The genetic basis of von Willebrand disease.

Goodeve AC

Blood Reviews, 2010

Limitations of the ristocetin cofactor assay in measurement of von Willebrand factor function.

Flood VH et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

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

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."