Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.W28insFs
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ADAMTS13

NM_139027.6:p.W28insFs

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

Characterization and treatment of congenital thrombotic thrombocytopenic purpura.

Alwan F et al.

Blood, 2019

ADAMTS13 Secretion and Residual Activity among Patients with Congenital Thrombotic Thrombocytopenic Purpura with and without Renal Impairment.

Rurali E et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2015

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

Lancellotti S et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2013

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

Hing ZA et al.

British Journal of Haematology, 2013

Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura.

Lotta LA et al.

Blood, 2012

ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.

Lotta LA et al.

Human Mutation, 2010

In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura.

Donadelli R et al.

Thrombosis and Haemostasis, 2006

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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."