Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.C127Y
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SERPINC1

NM_000488.4:p.C127Y

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

Seventeen novel SERPINC1 variants causing hereditary antithrombin deficiency in a Czech population.

Provazníková D et al.

Thrombosis Research, 2020

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