Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.T117M
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SERPINC1

NM_000488.4:p.T117M

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

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

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

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

Bravo-Pérez C et al.

American Journal of Hematology, 2022

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

The genetics of antithrombin.

Corral J et al.

Thrombosis Research, 2018

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

Rare double heterozygous mutations in antithrombin underlie hereditary thrombophilia in a Chinese family.

Deng H et al.

Journal of Thrombosis and Thrombolysis, 2013

[Molecular mechanisms of antithrombin deficiency caused by novel double heterozygous mutations].

Deng HY et al.

Zhonghua Yi Xue Za Zhi, 2013

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