Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.G1672R
Back to variants list

VWF

NM_000552.5:p.G1672R

Associated Papers

Updated global prevalence and ethnic diversity of von Willebrand disease based on population genetics analysis.

Seidizadeh O et al.

Scientific Reports, 2026

Deep molecular modeling and mechanistic insights into type 2A von Willebrand disease with von Willebrand factor A2 domain mutations.

Seidizadeh O et al.

Research and Practice in Thrombosis and Haemostasis, 2025

Comparison of genotypes and phenotypes for von Willebrand factor gene variants using Japanese genome database.

Akimoto T et al.

Blood Vessels, Thrombosis & Hemostasis, 2025

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

Genetic, clinical, and pathological study of patients with severe hypertension-associated renal microangiopathy.

Chen X et al.

Journal of Nephrology, 2023

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

Seidizadeh O et al.

Npj Genomic Medicine, 2023

Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening.

Manderstedt E et al.

Plos One, 2019

Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients.

Manderstedt E et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 2018

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

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Veyradier A et al.

Medicine, 2016

Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Wang QY et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Von Willebrand's disease in the year 2003: towards the complete identification of gene defects for correct diagnosis and treatment.

Castaman G et al.

Haematologica, 2003

A novel mutation Gly 1672-->Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease.

Hagiwara T et al.

Thrombosis and Haemostasis, 1996

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."