Varaico: Literature-Extracted Genetic Variants

Gene:SERPINC1
Variant:p.T226I
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SERPINC1

NM_000488.4:p.T226I

Associated Papers

Atypical pulmonary thromboembolism caused by the mutation site SERPINC1 of the antithrombin III gene: A case report.

Lin M et al.

Medicine, 2024

The genetic risk factors for cerebral venous thrombosis: a case-control study in a Chinese national comprehensive hospital.

Wang S et al.

Thrombosis Journal, 2024

Evaluation of cases with cerebral thrombosis in children.

Ünver O et al.

Turk Pediatri Arsivi, 2016

Thrombophilia in Patients With Lower Limb Deep Veins Thrombosis (LDVT) Results of a Monocentric Survey on 103 Consecutive Outpatients.

Signorelli SS et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2014

Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients.

Ding Q et al.

Thrombosis Research, 2013

Inherited trombophilic states and pulmonary embolism.

Konecny F

Journal of Research in Medical Sciences : the Official Journal of Isfahan University of Medical Sciences, 2009

Thrombophilic risk factors among 16 Lebanese patients with cerebral venous and sinus thrombosis.

Otrock ZK et al.

Journal of Thrombosis and Thrombolysis, 2008

Inherited risk factors for deep venous thrombosis following total hip arthroplasty in Japanese patients: matched control study.

Kiyoshige Y et al.

Journal of Orthopaedic Science : Official Journal of the Japanese Orthopaedic Association, 2007

[Homocysteinemia and thrombophilic factors in unexplained decompression sickness].

Candito M et al.

Revue Neurologique, 2006

[Thrombophilic factors in divers with undeserved decompression sickness].

Candito M et al.

Pathologie-biologie, 2006

Congenital absence of the inferior vena cava and genetic coagulation abnormalities: a rare associated risk factor for recurrent idiopathic deep vein thrombosis.

Parma M et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2003

[Acquired and inherited hypercoagulability among patients with cerebral venous thrombosis].

Sánchez-Martín B et al.

Neurologia (barcelona, Spain), 2002

Neonatal sinovenous thrombosis associated with homozygous thermolabile methylenetetrahydrofolate reductase in both mother and infant.

Grow JL et al.

Journal of Perinatology : Official Journal of the California Perinatal Association, 2002

Genetic susceptibility to venous thrombosis.

Seligsohn U et al.

The New England Journal of Medicine, 2001

Milder clinical presentation of haemophilia A with severe deficiency of factor VIII as measured by one-stage assay.

Ghosh K et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2001

Genetics and ischaemic stroke.

Hassan A et al.

Brain : a Journal of Neurology, 2000

Factor V Leiden and antiphospholipid antibodies are significant risk factors for ischemic stroke in children.

Kenet G et al.

Stroke, 2000

The prevalence of C677T mutation in the methylenetetrahydrofolate reductase gene and its association with venous thrombophilia in Taiwanese Chinese.

Lin JS et al.

Thrombosis Research, 2000

Homocysteine and human reproduction.

Eskes TK

Clinical and Experimental Obstetrics & Gynecology, 2000

The VITA project: C677T mutation in the methylene-tetrahydrofolate reductase gene and risk of venous thromboembolism.

Tosetto A et al.

British Journal of Haematology, 1997

Intracranial Major Artery and Venous Sinus Thrombosis in a Young Male with MTHFR Mutation and Protein S Deficiency.

Peddawad D

Case Reports in Neurology, 0

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