Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.K146E
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SERPINC1

NM_000488.4:p.K146E

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

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S4.xlsx › Sheet1

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

How I treat heterozygous hereditary antithrombin deficiency in pregnancy.

Bramham K et al.

Thrombosis and Haemostasis, 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."