Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.R625H
Back to variants list

ADAMTS13

NM_139027.6:p.R625H

Associated Papers

Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.

Cao W et al.

Blood Vessels, Thrombosis & Hemostasis, 2024

40765928 (PubMed )
Supplement: BVTH_VTH-2024-000154-mmc1.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_MOESM8_ESM.xlsx › clinvar

Thrombotic microangiopathy triggered by podocytopathy.

Veríssimo R et al.

Clinical Nephrology. Case Studies, 2021

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.

Fidalgo T et al.

Research and Practice in Thrombosis and Haemostasis, 2017

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

Lancellotti S et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2013

[ADAMTS13, von Willebrand factor specific cleaving protease].

Veyradier A et al.

Medecine Sciences : M/s, 2011

Polymorphisms and mutations in vWF and ADAMTS13 genes and their correlation with plasma levels of FVIII and vWF in patients with deep venous thrombosis.

Bittar LF et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2011

ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.

Lotta LA et al.

Human Mutation, 2010

Pathogenesis of thrombotic microangiopathies.

Zheng XL et al.

Annual Review of Pathology, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."