Varaico: Literature-Extracted Genetic Variants

Gene:VWF
Variant:p.A1500E
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VWF

NM_000552.5:p.A1500E

Associated Papers

Whole-exome sequencing detects mutations in pediatric patients with atypical hemolytic uremic syndrome in Taiwan.

Tseng MH et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Veyradier A et al.

Medicine, 2016

[Increased susceptibility of recombinant type 2A von Willebrand factor mutant A1500E to proteolysis by ADAMTS13].

Zhang JY et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2012

Molecular diagosis of von Willebrand disease.

Ruan C

International Journal of Hematology, 2002

A new mutation, Ala1500-->Glu, responsible for type 2A von Willebrand disease.

Wang Y et al.

International Journal of Hematology, 2000

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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."