Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.I218del1
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SERPINC1

NM_000488.4:p.I218del1

Associated Papers

Genotype phenotype correlation in a pediatric population with antithrombin deficiency.

Kovac M et al.

European Journal of Pediatrics, 2019

Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy.

Revilla N et al.

Scientific Reports, 2017

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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."