Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.R1583Q
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VWF

NM_000552.5:p.R1583Q

Associated Papers

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

Seidizadeh O et al.

Haematologica, 2026

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

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Seidizadeh O et al.

Blood Advances, 2022

Molecular suitability of the chacma baboon in human-targeted Von Willebrand factor directed studies.

Janse van Rensburg WJ

Journal of Medical Primatology, 2019

Type 2A (IIH) von Willebrand disease is due to mutations that affect von Willebrand factor multimerization.

Baronciani L et al.

Journal of Thrombosis and Haemostasis : Jth, 2009

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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."