Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.N2546Y
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VWF

NM_000552.5:p.N2546Y

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

Clinical utility of panel-based genetic sequencing for von Willebrand disease.

Ramanan R et al.

Research and Practice in Thrombosis and Haemostasis, 2025

40242192 (PubMed )
Supplement: mmc1.xlsx › Participant_data

Variant mapping using mass spectrometry-based proteotyping as a diagnostic tool in von Willebrand disease.

Kreft IC et al.

Journal of Thrombosis and Haemostasis : Jth, 2024

Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.

Willems SPE et al.

Research and Practice in Thrombosis and Haemostasis, 2024

39076726 (PubMed )
Supplement: mmc2.xlsx › Blad1

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases.

Seidizadeh O et al.

Npj Genomic Medicine, 2023

37845247 (PubMed )
Supplement: 41525_2023_375_MOESM1_ESM.pdf

Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.

Atiq F et al.

Blood Advances, 2022

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s002.pdf

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Baronciani L et al.

Blood Advances, 2021

The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3.

Yadegari H et al.

Hamostaseologie, 2020

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

von Willebrand factor propeptide and the phenotypic classification of von Willebrand disease.

Sanders YV et al.

Blood, 2015

Specific N-linked glycosylation sites modulate synthesis and secretion of von Willebrand factor.

McKinnon TA et al.

Blood, 2010

Laboratory diagnosis of von Willebrand disease type 1/2E (2A subtype IIE), type 1 Vicenza and mild type 1 caused by mutations in the D3, D4, B1-B3 and C1-C2 domains of the von Willebrand factor gene. Role of von Willebrand factor multimers and the von Willebrand factor propeptide/antigen ratio.

Gadisseur A et al.

Acta Haematologica, 2009

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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."