Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.W1050*
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ADAMTS13

NM_139026.6:p.W1050*

Associated Papers

Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance.

Jankowska KI et al.

Blood Advances, 2022

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

Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura.

Hing ZA et al.

British Journal of Haematology, 2013

Paradigm shift of childhood thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency.

Yagi H et al.

Presse Medicale (paris, France : 1983), 2012

Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.

Fujimura Y et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

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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."