Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.L1503Q
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VWF

NM_000552.5:p.L1503Q

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

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

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

Von Willebrand factor processing.

Brehm MA

Hamostaseologie, 2017

A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct.

Lynch CJ et al.

Plos One, 2017

C1272F: a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.

Woods AI et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2012

Identification and functional analysis of a novel von Willebrand factor mutation in a family with type 2A von Willebrand disease.

Dong J et al.

Plos One, 2012

[Gene mutation analysis of one case with von willebrand disease type 2A].

Hou LH et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2009

L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease.

Kashiwagi T et al.

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

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Theoretical structural explanation for Group I and Group II, type 2A von Willebrand disease mutations.

O'Brien LA et al.

Journal of Thrombosis and Haemostasis : Jth, 2005

Type 2 A (group II) von Willebrand disease mutations increase the susceptibility of VWF to ADAMTS-13.

Tsai HM

Journal of Thrombosis and Haemostasis : Jth, 2004

Molecular modeling of the von Willebrand factor A2 Domain and the effects of associated type 2A von Willebrand disease mutations.

Sutherland JJ et al.

Journal of Molecular Modeling, 2004

A novel type 2A (Group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers.

O'Brien LA et al.

Journal of Thrombosis and Haemostasis : Jth, 2004

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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."