Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.C127R
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SERPINC1

NM_000488.4:p.C127R

Associated Papers

Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency.

Wang HL et al.

Thrombosis Journal, 2023

Fatal Cerebral Venous Thrombosis in a Pregnant Woman with Inherited Antithrombin Deficiency after BNT162b2 mRNA COVID-19 Vaccination.

Takikawa K et al.

The Tohoku Journal of Experimental Medicine, 2022

Functional Characterization of Antithrombin Mutations by Monitoring of Thrombin Inhibition Kinetics.

Reda S et al.

International Journal of Molecular Sciences, 2021

Prediction of the pathogenicity of antithrombin sequence variations by in silico methods.

Luxembourg B et al.

Thrombosis Research, 2015

Sequence, phylogenetic and variant analyses of antithrombin III.

Kumar A et al.

Biochemical and Biophysical Research Communications, 2013

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

Deng H et al.

Journal of Thrombosis and Thrombolysis, 2013

How I treat heterozygous hereditary antithrombin deficiency in pregnancy.

Bramham K et al.

Thrombosis and Haemostasis, 2013

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

Deng HY et al.

Zhonghua Yi Xue Za Zhi, 2013

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