Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.P812L
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VWF

NM_000552.5:p.P812L

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

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc5.xlsx › nSMs

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

37845247 (PubMed )
Supplement: 41525_2023_375_MOESM1_ESM.pdf

Structural insights into blood coagulation factor VIII: Procoagulant complexes, membrane binding, and antibody inhibition.

Childers KC et al.

Journal of Thrombosis and Haemostasis : Jth, 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

Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project.

Pérez-Rodríguez A et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Pagliari MT et al.

Plos One, 2021

34662354 (PubMed )
Supplement: pone.0258675.s002.pdf

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

The von Willebrand factor D'D3 assembly and structural principles for factor VIII binding and concatemer biogenesis.

Dong X et al.

Blood, 2019

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

Recessive von Willebrand disease type 2 Normandy: variable expression of mild hemophilia and VWD type 1.

Michiels JJ et al.

Acta Haematologica, 2009

Shielding of the A1 domain by the D'D3 domains of von Willebrand factor modulates its interaction with platelet glycoprotein Ib-IX-V.

Ulrichts H et al.

The Journal of Biological Chemistry, 2006

Molecular study of VWF gene from Mexican Mestizo patients with von Willebrand disease, and the finding of three new mutations.

Melo-Nava BM et al.

Blood Cells, Molecules & Diseases, 0

[Determination of von Willebrand factor multimers in Mexican population].

Hernández-Zamora E et al.

Cirugia Y Cirujanos, 0

[Von Willebrand disease. Molecular biology and diagnosis].

Hernández-Zamora E et al.

Cirugia Y Cirujanos, 0

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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."