Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.G424D
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SERPINC1

NM_000488.4:p.G424D

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

Thrombophilia Screening: Not So Straightforward.

Moore GW

Seminars in Thrombosis and Hemostasis, 2024

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

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

The genetics of antithrombin.

Corral J et al.

Thrombosis Research, 2018

Antithrombin heparin binding site deficiency: A challenging diagnosis of a not so benign thrombophilia.

Orlando C et al.

Thrombosis Research, 2015

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

Luxembourg B et al.

Thrombosis Research, 2015

Sequence, phylogenetic and variant analyses of antithrombin III.

Kumar A et al.

Biochemical and Biophysical Research Communications, 2013

Antithrombin deficiency in three Japanese families: one novel and two reported point mutations in the antithrombin gene.

Maruyama K 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."