Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.A1377V
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VWF

NM_000552.5:p.A1377V

Associated Papers

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

Seidizadeh O et al.

Haematologica, 2026

Type 2M/2A von Willebrand disease: a shared phenotype between type 2M and 2A.

Seidizadeh O et al.

Blood Advances, 2024

Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.

Woods AI et al.

American Journal of Medical Genetics. Part A, 2024

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

Reply to "Comment on: A comparative study in type 2 von Willebrand disease patients using four different platelet-dependent von Willebrand factor assays".

Colpani P et al.

Research and Practice in Thrombosis and Haemostasis, 2023

Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.

Alzahrani FM et al.

Journal of Medicine and Life, 2023

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

Von Willebrand disease type 2M: Correlation between genotype and phenotype: Reply to comment from Dr. Favaloro and to comment from Dr. Woods et al.

Maas DPMSM et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

Von Willebrand disease type 2M: Correlation between genotype and phenotype.

Maas DPMSM et al.

Journal of Thrombosis and Haemostasis : Jth, 2022

34758185 (PubMed )
Supplement: JTH-20-316-s001.docx

2B or not 2B? A diagnosis of von Willebrand disease a lifetime of 86 years in the making.

Chapman K et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2021

Molecular and clinical profile of type 2 von Willebrand disease in Iran: a thirteen-year experience.

Rassoulzadegan M et al.

International Journal of Hematology, 2020

Evaluation of a fully automated von Willebrand factor assay panel for the diagnosis of von Willebrand disease.

Stufano F et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2020

Combined effects of two mutations in von Willebrand disease 2M phenotype.

Woods AI et al.

Research and Practice in Thrombosis and Haemostasis, 2018

von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients.

Pagliari MT et al.

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

Group association test using a hidden Markov model.

Cheng Y et al.

Biostatistics (oxford, England), 2016

A variational Bayes discrete mixture test for rare variant association.

Logsdon BA et al.

Genetic Epidemiology, 2014

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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."