Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.R425H
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SERPINC1

NM_000488.4:p.R425H

Associated Papers

A comprehensive study of antithrombin deficiency in a large cohort of Chinese thrombophilia pedigrees: uncovering 4 SERPINC1 pathogenic variants merely impaired progressive activities.

Chen C et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Hidden antithrombin defects: time to change and improve our thrombophilia diagnostic approach.

Corral J et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Diagnostic Performance of Commercial Antithrombin Activity Assays: Do We Get What We Expect?

Orlando C et al.

Thrombosis and Haemostasis, 2025

How we treat severe inherited antithrombin deficiency: lessons from cases homozygous for the Budapest 3 variant.

Bravo-Pérez C et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Novel insights into antithrombin deficiency enabled by mass spectrometry-based precision diagnostics.

Kruijt M et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Thrombophilia Screening: Not So Straightforward.

Moore GW

Seminars in Thrombosis and Hemostasis, 2024

Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.

Cifuentes R et al.

International Journal of Molecular Sciences, 2023

36902454 (PubMed )
Supplement: ijms-24-05023-s001.zip › ijms-2244324-supplementary.pdf

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1

Recommendations for clinical laboratory testing for antithrombin deficiency; Communication from the SSC of the ISTH.

Van Cott EM et al.

Journal of Thrombosis and Haemostasis : Jth, 2020

Monitoring of heparins in antithrombin-deficient patients.

Croles FN et al.

Thrombosis Research, 2019

The genetics of antithrombin.

Corral J et al.

Thrombosis Research, 2018

Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report.

Wang D et al.

Frontiers of Medicine, 2018

Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.

Wypasek E et al.

Polish Archives of Internal Medicine, 2017

Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.

Luxembourg B et al.

Thrombosis Research, 2015

Development of a novel, rapid assay for detection of heparin-binding defect antithrombin deficiencies: the heparin-antithrombin binding (HAB) ratio.

Moore GW et al.

Thrombosis Research, 2015

Sequence, phylogenetic and variant analyses of antithrombin III.

Kumar A et al.

Biochemical and Biophysical Research Communications, 2013

Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients.

Ding Q et al.

Thrombosis Research, 2013

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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."