Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.A631V
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ADAMTS13

NM_139027.6:p.A631V

Associated Papers

Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.

Dubois MD et al.

Research and Practice in Thrombosis and Haemostasis, 2022

The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Zhao T et al.

Bmc Genomic Data, 2021

34789164 (PubMed )
Supplement: 12863_2021_1010_MOESM10_ESM.xlsx › HGMD

ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome.

Joly BS et al.

Thrombosis and Haemostasis, 2018

Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.

Kremer Hovinga JA et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.

Fidalgo T et al.

Thrombosis and Haemostasis, 2016

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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."