Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.R164*
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SERPINC1

NM_000488.4:p.R164*

Associated Papers

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

Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report.

Wang D et al.

Frontiers of Medicine, 2018

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

Gindele R et al.

Thrombosis Research, 2017

Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients.

Sekiya A et al.

International Journal of Hematology, 2017

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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."