Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.I1416N
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VWF

NM_000552.5:p.I1416N

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

Integrating Next-Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real-World Data From Spanish Patients.

Borràs N et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

40577417 (PubMed )
Supplement: HAE-31-734-s001.pdf

Probing rare von Willebrand disease-causing mutations in the D4 and C-domains of von Willebrand factor.

Mobayen G et al.

Research and Practice in Thrombosis and Haemostasis, 2025

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

Seidizadeh O et al.

Blood Advances, 2024

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

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

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

Yadegari H et al.

Hamostaseologie, 2020

von Willebrand factor clearance - biological mechanisms and clinical significance.

O'Sullivan JM et al.

British Journal of Haematology, 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

Clearance of von Willebrand factor.

Casari C et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

The molecular genetics of von Willebrand disease.

Berber E

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2012

Characterisation of von Willebrand factor A1 domain mutants I1416N and I1416T: correlation of clinical phenotype with flow-based platelet adhesion.

McKinnon TA et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

Advances in the diagnosis and management of type 1 von Willebrand disease.

Castaman G et al.

Expert Review of Hematology, 2011

The genetic basis of von Willebrand disease.

Goodeve AC

Blood Reviews, 2010

Reduced von Willebrand factor survival in von Willebrand disease: pathophysiologic and clinical relevance.

Castaman G et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

Laboratory diagnosis and molecular classification of von Willebrand disease.

Gadisseur A et al.

Acta Haematologica, 2009

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

Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD).

Budde U et al.

Journal of Thrombosis and Haemostasis : Jth, 2008

[Von Willebrand disease].

Smejkal P et al.

Vnitrni Lekarstvi, 2008

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

Goodeve A et al.

Blood, 2007

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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."