Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.G236C
Back to variants list

ADAMTS13

NM_139027.6:p.G236C

Associated Papers

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

Seidizadeh O et al.

Blood Advances, 2024

38935915 (PubMed )
Supplement: BLOODA_ADV-2024-013421-mmc1.pdf

Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update.

Markham-Lee Z et al.

Platelets, 2023

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 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome.

Joly BS et al.

Thrombosis and Haemostasis, 2018

Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.

Kremer Hovinga JA et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Interaction between Multimeric von Willebrand Factor and Complement: A Fresh Look to the Pathophysiology of Microvascular Thrombosis.

Bettoni S et al.

Journal of Immunology (baltimore, Md. : 1950), 2017

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

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."