Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.A414T
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SERPINC1

NM_000488.4:p.A414T

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

Antithrombin-p.Ala416Pro: the second reported case in Japan.

Shigekiyo T et al.

Internal Medicine (tokyo, Japan), 2014

Sequence, phylogenetic and variant analyses of antithrombin III.

Kumar A et al.

Biochemical and Biophysical Research Communications, 2013

Rare double heterozygous mutations in antithrombin underlie hereditary thrombophilia in a Chinese family.

Deng H et al.

Journal of Thrombosis and Thrombolysis, 2013

[Molecular mechanisms of antithrombin deficiency caused by novel double heterozygous mutations].

Deng HY et al.

Zhonghua Yi Xue Za Zhi, 2013

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