Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.P2377insFs
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VWF

NM_000552.5:p.P2377insFs

Associated Papers

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

Baronciani L et al.

Blood Advances, 2021

Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.

Hampshire DJ et al.

Thrombosis and Haemostasis, 2013

Type 1 von Willebrand disease due to reduced von Willebrand factor synthesis and/or survival: observations from a case series.

Casonato A et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2010

Von Willebrand factor propeptide makes it easy to identify the shorter Von Willebrand factor survival in patients with type 1 and type Vicenza von Willebrand disease.

Sztukowska M et al.

British Journal of Haematology, 2008

Multiple von Willebrand factor mutations in patients with recessive type 1 von Willebrand disease.

Casonato A et al.

Thrombosis Research, 2007

A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene.

Castaman G et al.

Thrombosis Research, 2002

Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients.

Baronciani L et al.

Blood Cells, Molecules & Diseases, 0

Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.

Gupta PK et al.

Blood Cells, Molecules & Diseases, 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."