Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.S1036*
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ADAMTS13

NM_139027.6:p.S1036*

Associated Papers

Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.

Borogovac A et al.

Blood Advances, 2022

34807988 (PubMed )
Supplement: advancesADV2021005760-suppl1.pdf

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

Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.

Kremer Hovinga JA et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.

Hassenpflug WA et al.

Thrombosis and Haemostasis, 2018

Proteolytic processing of von Willebrand factor by adamts13 and leukocyte proteases.

Lancellotti S et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2013

Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura.

Klukowska A et al.

Journal of Pediatric Hematology/oncology, 2010

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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."