Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.P429L
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SERPINC1

NM_000488.4:p.P429L

Associated Papers

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

Luxembourg B et al.

Thrombosis Research, 2015

Antithrombin III deficiency in Indian patients with deep vein thrombosis: identification of first India based AT variants including a novel point mutation (T280A) that leads to aggregation.

Bhakuni T et al.

Plos One, 2015

Role of the C-sheet in the maturation of N-glycans on antithrombin: functional relevance of pleiotropic mutations.

Aguila S et al.

Journal of Thrombosis and Haemostasis : Jth, 2014

Frequent association of thrombophilia in cerebral venous sinus thrombosis.

Ikejiri M et al.

International Journal of Hematology, 2012

Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis.

Picard V et al.

Blood, 2003

Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.

Verpy E et al.

American Journal of Human Genetics, 1996

Molecular genetics of human antithrombin deficiency.

Perry DJ et al.

Human Mutation, 1996

Microheterogeneity of antithrombin III: effect of single amino acid substitutions and relationship with functional abnormalities.

De Stefano V et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 1994

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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."