Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.S114R
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SERPINC1

NM_000488.4:p.S114R

Associated Papers

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

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

Luxembourg B et al.

Thrombosis Research, 2015

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

Deng H et al.

Journal of Thrombosis and Thrombolysis, 2013

[Phenotypic detection and structure analysis of a PC missense mutation (Met406Ile) resulted in venous thromboembolism].

Zhang L et al.

Zhonghua Yi Xue Za Zhi, 2013

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

Deng HY et al.

Zhonghua Yi Xue Za Zhi, 2013

Three case reports of inherited antithrombin deficiency in China: double novel missense mutations, a nonsense mutation and a frameshift mutation.

Deng H et al.

Journal of Thrombosis and Thrombolysis, 2012

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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."