Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.H401R
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SERPINC1

NM_000488.4:p.H401R

Associated Papers

New SERPINC1 gene mutations in patients with antithrombin deficiency: antithrombin Lodz I, II, III, and IV.

Nowak W et al.

Polish Archives of Internal Medicine, 2022

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.

Puurunen M et al.

Journal of Thrombosis and Haemostasis : Jth, 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."