Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.V1565L
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VWF

NM_000552.5:p.V1565L

Associated Papers

Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13.

Lokki AI et al.

Research Square, 2025

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

Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.

Alzahrani FM et al.

Journal of Medicine and Life, 2023

The VWF binding aptamer rondoraptivon pegol increases platelet counts and VWF/FVIII in type 2B von Willebrand disease.

Ay C et al.

Blood Advances, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Pagliari MT et al.

Plos One, 2021

34662354 (PubMed )
Supplement: pone.0258675.s001.pdf

Identification of a missense mutation (p.Leu1733Pro) in the A3 domain of von Willebrand factor in a family with type 2M von Willebrand disease.

Shigekiyo T et al.

International Journal of Hematology, 2020

Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.

Borràs N et al.

Thrombosis and Haemostasis, 2020

Genetic variants of VWF gene in type 2 von Willebrand disease.

Freitas SDS et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019

Association of a disintegrin and metalloproteinase with a thrombospondin type 1 motif member 13 polymorphisms with severity of coronary stenosis in type 2 diabetes mellitus.

Lasom S et al.

Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2018

Protective effect of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 haplotype on coronary artery disease.

Lasom S et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2017

Molecular characterization of exon 28 of von Willebrand's factor gene in Nigerian population.

Ezigbo ED et al.

Nigerian Journal of Clinical Practice, 2017

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06Q-01A.domain

Calcium modulates force sensing by the von Willebrand factor A2 domain.

Jakobi AJ et al.

Nature Communications, 2011

The genetic basis of von Willebrand disease.

Goodeve AC

Blood Reviews, 2010

C1584 in von Willebrand factor is necessary for enhanced proteolysis by ADAMTS13 in vitro.

Keeney S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007

The association between the L1565 variant of von Willebrand factor and susceptibility to proteolysis by ADAMTS13.

Davies JA et al.

Haematologica, 2007

Von Willebrand factor gene polymorphisms in three Brazilian ethnic groups.

Simon D et al.

Human Biology, 2000

Molecular genetics of von Willebrand disease.

Ginsburg D et al.

Blood, 1992

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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."