Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.M1761K
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VWF

NM_000552.5:p.M1761K

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

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.4

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

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

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

Current issues in diagnosis and treatment of von Willebrand disease.

Keesler DA et al.

Research and Practice in Thrombosis and Haemostasis, 2018

M1761K mutation in the von Willebrand factor A3 domain associated with impaired collagen binding and without platelet dysfunction.

Ong DM et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016

New insights into genotype and phenotype of VWD.

Flood VH

Hematology. American Society of Hematology. Education Program, 2014

A family with type 2M VWD with normal VWF:RCo but reduced VWF:CB and a M1761K mutation in the A3 domain.

Keeling D et al.

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

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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."