Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.R161Q
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SERPINC1

NM_000488.4:p.R161Q

Associated Papers

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

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5

GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Megy K et al.

Journal of Thrombosis and Haemostasis : Jth, 2021

34355501 (PubMed )
Supplement: JTH-19-2612-s004.xlsx › ALL

The genetics of antithrombin.

Corral J et al.

Thrombosis Research, 2018

Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary: phenotype analysis in a large cohort.

Gindele R et al.

Journal of Thrombosis and Haemostasis : Jth, 2016

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

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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."