Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1306L
Back to variants list

VWF

NM_000552.5:p.R1306L

Associated Papers

Genetic determinants of clinical variability in type 2 von Willebrand disease: bridging genotype and phenotype.

Seidizadeh O et al.

Haematologica, 2026

Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.

Yadegari H et al.

Thrombosis and Haemostasis, 2026

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

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Seidizadeh O et al.

Blood Advances, 2022

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

How I treat type 2B von Willebrand disease.

Kruse-Jarres R et al.

Blood, 2018

An update on type 2B von Willebrand disease.

Mikhail S et al.

Expert Review of Hematology, 2014

A novel use of thromboelastography in type 2B von Willebrand disease.

Toukh M et al.

International Journal of Laboratory Hematology, 2013

Genetic testing for von Willebrand disease: the case against.

Favaloro EJ

Journal of Thrombosis and Haemostasis : Jth, 2010

Dominant von Willebrand disease type 2M and 2U are variable expressions of one distinct disease entity caused by loss-of-function mutations in the A1 domain of the von Willebrand factor gene.

Gadisseur A et al.

Acta Haematologica, 2009

Management of inherited von Willebrand disease in 2007.

Federici AB et al.

Annals of Medicine, 2007

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

Molecular genetics of type 2 von Willebrand disease.

Fressinaud E et al.

International Journal of Hematology, 2002

Molecular genetics of von Willebrand disease.

Mazurier C et al.

Annales De Genetique, 1998

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."