Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.I1416T
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VWF

NM_000552.5:p.I1416T

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

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

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

Analysis of von Willebrand Disease in the "Heart of Europe".

Vangenechten I et al.

Th Open : Companion Journal to Thrombosis and Haemostasis, 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

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.

Starke RD et al.

Blood, 2013

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

The molecular biology of von Willebrand disease.

Keeney S et al.

Clinical and Laboratory Haematology, 2001

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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."