Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1341L
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VWF

NM_000552.5:p.R1341L

Associated Papers

Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Kalot MA et al.

Blood Advances, 2022

35192687 (PubMed )
Supplement: advancesADV2021005431C-suppl1.pdf

How I treat type 2B von Willebrand disease.

Kruse-Jarres R et al.

Blood, 2018

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

An update on type 2B von Willebrand disease.

Mikhail S et al.

Expert Review of Hematology, 2014

A novel use of thromboelastography in type 2B von Willebrand disease.

Toukh M et al.

International Journal of Laboratory Hematology, 2013

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

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

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

The effect of exercise on von Willebrand factor and ADAMTS-13 in individuals with type 1 and type 2B von Willebrand disease.

Stakiw J et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

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

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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."