Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.C804F
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VWF

NM_000552.5:p.C804F

Associated Papers

Mechano-covalent protection of coagulation factor VIII by von Willebrand factor.

Butera D et al.

Blood Advances, 2023

Structural insights into blood coagulation factor VIII: Procoagulant complexes, membrane binding, and antibody inhibition.

Childers KC et al.

Journal of Thrombosis and Haemostasis : Jth, 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

Von Willebrand disease type 2N: An update.

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Genetic Background of von Willebrand Disease: History, Current State, and Future Perspectives.

Zolkova J et al.

Seminars in Thrombosis and Hemostasis, 2020

Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.

Rassoulzadegan M et al.

International Journal of Hematology, 2020

Diagnostic Differentiation of von Willebrand Disease Types 1 and 2 by von Willebrand Factor Multimer Analysis and DDAVP Challenge Test.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2017

A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.

Casonato A et al.

Haematologica, 2013

The molecular genetics of von Willebrand disease.

Berber E

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012

The genetic basis of von Willebrand disease.

Goodeve AC

Blood Reviews, 2010

Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.

Michiels JJ et al.

Acta Haematologica, 2009

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Mutations C1157F and C1234W of von Willebrand factor cause intracellular retention with defective multimerization and secretion.

Hommais A et al.

Journal of Thrombosis and Haemostasis : Jth, 2006

Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene.

Hilbert L et al.

British Journal of Haematology, 2004

Large experience with a factor VIII binding assay of plasma von Willebrand factor using commercial reagents.

Caron C et al.

British Journal of Haematology, 2002

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