Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.N437K
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SERPINC1

NM_000488.4:p.N437K

Associated Papers

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.

Stefanucci L et al.

Blood, 2023

37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.5

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

Luxembourg B et al.

Thrombosis Research, 2015

Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study.

Kumar R et al.

British Journal of Haematology, 2014

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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."