Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.Q723K
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ADAMTS13

NM_139027.6:p.Q723K

Associated Papers

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

Seidizadeh O et al.

Blood Advances, 2024

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5

Novel ADAMTS13 mutation in a family with three recurrent neonatal deaths: a case report and literature review.

Yang L et al.

Translational Pediatrics, 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

Two newborn-onset patients of Upshaw-Schulman syndrome with distinct subsequent clinical courses.

Tanabe S et al.

International Journal of Hematology, 2012

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

Yagi H et al.

Presse Medicale (paris, France : 1983), 2012

Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome.

Kokame K et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

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."