Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.I386T
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SERPINC1

NM_000488.4:p.I386T

Associated Papers

Thrombophilia Screening: Not So Straightforward.

Moore GW

Seminars in Thrombosis and Hemostasis, 2024

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect.

Weronska A et al.

Haematologica, 2023

Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype.

Natorska J et al.

Thrombosis and Haemostasis, 2023

Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency.

Cifuentes R et al.

International Journal of Molecular Sciences, 2023

36902454 (PubMed )
Supplement: ijms-24-05023-s001.zip › ijms-2244324-supplementary.pdf

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

Bravo-Pérez C et al.

American Journal of Hematology, 2022

New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV.

Nowak W et al.

Polish Archives of Internal Medicine, 2022

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14

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_S6.xlsx › Sheet1

Clinical and laboratory characteristics of antithrombin deficiencies: A large cohort study from a single diagnostic center.

Gindele R et al.

Thrombosis Research, 2017

Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.

Wypasek E et al.

Polish Archives of Internal Medicine, 2017

Influence of natural SERPINC1 mutations on ex vivo thrombin generation.

Alhenc-Gelas M et al.

Journal of Thrombosis and Haemostasis : Jth, 2010

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