Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.P1601T
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VWF

NM_000552.5:p.P1601T

Associated Papers

Clinical relevance of genetic variants in the von Willebrand factor according to in-silico methods.

Woods AI et al.

American Journal of Medical Genetics. Part A, 2024

The genetic basis of von Willebrand disease.

Goodeve AC

Blood Reviews, 2010

ADAMTS13 cleavage efficiency is altered by mutagenic and, to a lesser extent, polymorphic sequence changes in the A1 and A2 domains of von Willebrand factor.

Pruss CM et al.

British Journal of Haematology, 2008

C1584 in von Willebrand factor is necessary for enhanced proteolysis by ADAMTS13 in vitro.

Keeney S et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2007

Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques.

Hashemi Soteh M et al.

Haematologica, 2007

The association between the L1565 variant of von Willebrand factor and susceptibility to proteolysis by ADAMTS13.

Davies JA et al.

Haematologica, 2007

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