Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.E1447Q
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VWF

NM_000552.5:p.E1447Q

Associated Papers

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

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

Yadegari H et al.

Hamostaseologie, 2020

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

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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