Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.T339R
Back to variants list

ADAMTS13

NM_139027.6:p.T339R

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura.

Wang X et al.

Current Medical Science, 2023

Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19.

Zguro K et al.

Viruses, 2022

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

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Song J et al.

Molecular Brain, 2019

31699123 (PubMed )
Supplement: 13041_2019_507_MOESM1_ESM.xlsx › SNPs_merged_1000g_deleterious

Next-Generation Sequencing and In Vitro Expression Study of ADAMTS13 Single Nucleotide Variants in Deep Vein Thrombosis.

Pagliari MT et al.

Plos One, 2016

A Unique Case Involving a Female Patient with Upshaw-Schulman Syndrome: Low Titers of Antibodies against ADAMTS13 prior to Pregnancy Disappeared after Successful Delivery.

Ogawa Y et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2015

Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.

Lotta LA et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

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

ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.

Lotta LA et al.

Human Mutation, 2010

Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients.

Fujimura Y et al.

British Journal of Haematology, 2009

[Development and application of a new ADAMTS13 assay for TTP diagnosis].

Kokame K et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005

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."