Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.E641K
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ADAMTS13

NM_139027.6:p.E641K

Associated Papers

Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.

Seidizadeh O et al.

Blood Advances, 2024

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_MOESM2_ESM.xlsx › known

First reported case of congenital thrombotic thrombocytopenic purpura in Taiwan with novel mutation of ADAMTS13 gene.

Chou SC et al.

International Journal of Hematology, 2021

Characterization and treatment of congenital thrombotic thrombocytopenic purpura.

Alwan F et al.

Blood, 2019

Targeted exome sequencing in anti-factor H antibody negative HUS reveals multiple variations.

Thergaonkar RW et al.

Clinical and Experimental Nephrology, 2018

Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.

Kremer Hovinga JA et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

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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."