Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.A459D
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SERPINC1

NM_000488.4:p.A459D

Associated Papers

Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients.

Sekiya A et al.

International Journal of Hematology, 2017

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

Luxembourg B et al.

Thrombosis Research, 2015

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

Maruyama K et al.

Thrombosis Research, 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."