Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.R177C
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SERPINC1

NM_000488.4:p.R177C

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

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

Kruijt M et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia.

Bravo-Pérez C et al.

American Journal of Hematology, 2022

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Carrier frequencies of antithrombin, protein C, and protein S deficiency variants estimated using a public database and expression experiments.

Maruyama K et al.

Research and Practice in Thrombosis and Haemostasis, 2021

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."