Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.T117K
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SERPINC1

NM_000488.4:p.T117K

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

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

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

Luxembourg B et al.

Thrombosis Research, 2015

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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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."