Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.S1310F
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VWF

NM_000552.5:p.S1310F

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

Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.

Woods AI et al.

American Journal of Medical Genetics. Part A, 2024

Analysis of von Willebrand Disease in the "Heart of Europe".

Vangenechten I et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2022

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

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

Phenotypic Parameters in Genotypically Selected Type 2B von Willebrand Disease Patients: A Large, Single-Center Experience Including a New Novel Mutation.

Woods AI et al.

Seminars in Thrombosis and Hemostasis, 2017

An update on type 2B von Willebrand disease.

Mikhail S et al.

Expert Review of Hematology, 2014

Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib.

Blenner MA et al.

The Journal of Biological Chemistry, 2014

Translational medicine advances in von Willebrand disease.

Lillicrap D

Journal of Thrombosis and Haemostasis : Jth, 2013

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

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

Torres R et al.

Clinics in Laboratory Medicine, 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

Management of inherited von Willebrand disease in 2007.

Federici AB et al.

Annals of Medicine, 2007

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."