Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.Y95C
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SERPINC1

NM_000488.4:p.Y95C

Associated Papers

A comprehensive study of antithrombin deficiency in a large cohort of Chinese thrombophilia pedigrees: uncovering 4 SERPINC1 pathogenic variants merely impaired progressive activities.

Chen C et al.

Journal of Thrombosis and Haemostasis : Jth, 2025

High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction.

Ilves N et al.

Journal of Child Neurology, 2023

Management of heparin resistance due to antithrombin deficiency in a Chinese pregnant woman: a case report.

Zhang X et al.

The Journal of International Medical Research, 2021

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-
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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."