Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.S223P
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SERPINC1

NM_000488.4:p.S223P

Associated Papers

Generation of prostate cancer assembloids modeling the patient-specific tumor microenvironment.

Lee J et al.

Plos Genetics, 2025

40163511 (PubMed )
Supplement: pgen.1011652.s005.xlsx › tumor_tissue_somatic_variants

Antithrombin III deficiency in a patient with recurrent venous thromboembolism: A case report.

Luo JQ et al.

World Journal of Clinical Cases, 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

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations

Incidence and features of thrombosis in children with inherited antithrombin deficiency.

de la Morena-Barrio B et al.

Haematologica, 2019

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

Wypasek E et al.

Polish Archives of Internal Medicine, 2017

Sequence, phylogenetic and variant analyses of antithrombin III.

Kumar A et al.

Biochemical and Biophysical Research Communications, 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."