Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.Y795C
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VWF

NM_000552.5:p.Y795C

Associated Papers

Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.

Seidizadeh O et al.

Scientific Reports, 2026

41559284 (PubMed )
Supplement: 41598_2026_36145_MOESM1_ESM.pdf

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

Von Willebrand disease type 2N: An update.

Seidizadeh O et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Gindele R et al.

Life (basel, Switzerland), 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

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

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

Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotype.

Castaman G et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

The genetic basis of von Willebrand disease.

Goodeve AC

Blood Reviews, 2010

[Von Willebrand disease: diagnostic and treatment dilemmas].

Inbal A

Harefuah, 2010

Laboratory diagnosis and molecular classification of von Willebrand disease.

Gadisseur A et al.

Acta Haematologica, 2009

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 update: diagnostic and treatment dilemmas.

Bolton-Maggs PH et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2008

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Management of inherited von Willebrand disease in 2007.

Federici AB et al.

Annals of Medicine, 2007

Classification and characterization of hereditary types 2A, 2B, 2C, 2D, 2E, 2M, 2N, and 2U (unclassifiable) von Willebrand disease.

Michiels JJ et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2006

New insight into the molecular basis of hemophilia A.

Oldenburg J et al.

International Journal of Hematology, 2006

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

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.

Schneppenheim R et al.

Thrombosis and Haemostasis, 2004

Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.

Castaman G et al.

Haematologica, 2003

The molecular biology of von Willebrand disease.

Keeney S et al.

Clinical and Laboratory Haematology, 2001

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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."