Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.S1486L
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VWF

NM_000552.5:p.S1486L

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM7_ESM.xlsx › Downgraded_ALL

Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.

Pankratz N et al.

Human Molecular Genetics, 2022

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

Pagliari MT et al.

Plos One, 2021

34662354 (PubMed )
Supplement: pone.0258675.s002.pdf

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

Group association test using a hidden Markov model.

Cheng Y et al.

Biostatistics (oxford, England), 2016

The O-linked glycans of human von Willebrand factor modulate its interaction with ADAMTS-13.

Nowak AA et al.

Journal of Thrombosis and Haemostasis : Jth, 2014

A variational Bayes discrete mixture test for rare variant association.

Logsdon BA et al.

Genetic Epidemiology, 2014

Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.

Johnsen JM et al.

Blood, 2013

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