Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.P112T
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SERPINC1

NM_000488.4:p.P112T

Associated Papers

Next-Generation Sequencing of 17 Genes Associated with Venous Thromboembolism Reveals a Deficit of Non-Synonymous Variants in Procoagulant Genes.

Manderstedt E et al.

Thrombosis and Haemostasis, 2019

Rare double heterozygous mutations in antithrombin underlie hereditary thrombophilia in a Chinese family.

Deng H et al.

Journal of Thrombosis and Thrombolysis, 2013

Antithrombin deficiency in three Japanese families: one novel and two reported point mutations in the antithrombin gene.

Maruyama K et al.

Thrombosis Research, 2013

[Molecular mechanisms of antithrombin deficiency caused by novel double heterozygous mutations].

Deng HY et al.

Zhonghua Yi Xue Za Zhi, 2013

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 › TypeII-
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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."