Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.A436D
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SERPINC1

NM_000488.4:p.A436D

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

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

Orlando C et al.

Thrombosis and Haemostasis, 2025

Whole genome sequencing identifies pathogenic genetic variants in Han Chinese patients with familial venous thromboembolism.

Zhang Z et al.

Communications Biology, 2025

40221599 (PubMed )
Supplement: 42003_2025_7935_MOESM1_ESM.pdf

Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study.

Li L et al.

Thrombosis Journal, 2023

37789321 (PubMed )
Supplement: 12959_2023_548_MOESM1_ESM.docx

Functional analysis of two abnormal antithrombin proteins with different intracellular kinetics.

Imai Y et al.

Thrombosis Research, 2023

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

Luxembourg B et al.

Thrombosis Research, 2015

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