Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.G413E
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F7

NM_019616.4:p.G413E

Associated Papers

Genetic determinants of activated factor VII-antithrombin plasma levels and mortality in patients with coronary artery disease.

Osti N et al.

Thrombosis Research, 2025

A novel compound heterozygous mutation (c.64G > A and c.506-1G > A) associated with congenital coagulation factor VII deficiency: a case report and literature review.

Jiao Y et al.

Annals of Hematology, 2025

Molecular and clinical profile of rare bleeding disorders: A single-center retrospective study.

Moghadam AA et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2024

Rare bleeding disorders: Real-world data from a Spanish tertiary hospital.

Martínez-Carballeira D et al.

Blood Cells, Molecules & Diseases, 2024

Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency.

Zhou P et al.

Thrombosis Research, 2024

Genetic Landscape of Factor VII Deficiency: Insights from a Comprehensive Analysis of Pathogenic Variants and Their Impact on Coagulation Activity.

Preisler B et al.

International Journal of Molecular Sciences, 2024

Molecular Genetic Analysis of Russian Patients with Coagulation Factor FVII Deficiency.

Pshenichnikova O et al.

Genes, 2023

Acute Thrombotic Events in Association With Coronavirus Disease of 2019 Immunization as Initial Presentation of Congenital Factor VII Deficiency.

Trillo A et al.

Journal of Pediatric Hematology/oncology, 2023

Mild FVII deficiency - Correlation between genotype and phenotype.

Fraser C et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023

Extensive genetic screening of Iranian Factor FVII-deficient individuals unraveled several novel mutations and postulated founder effects in some cases.

Ravanbod S et al.

Research and Practice in Thrombosis and Haemostasis, 2023

Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency.

Alesci RS et al.

Frontiers in Medicine, 2023

Genetic Variants Associated with High Susceptibility of Premature Ischemic Stroke.

Isordia-Salas I et al.

Journal of the Renin-angiotensin-aldosterone System : Jraas, 2023

Novel heterozygous F7 gene mutation (c. C1286T) associated with congenital factor VII deficiency: A case report and literature review.

Tang H et al.

Journal of Clinical Laboratory Analysis, 2022

The EAHAD blood coagulation factor VII variant database.

Giansily-Blaizot M et al.

Human Mutation, 2020

Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.

He WB et al.

Bmc Medical Genetics, 2018

The molecular basis of low activity levels of coagulation factor VII: a Brazilian cohort.

Rabelo FY et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2015

[Factor VII deficiency].

Kändler H et al.

Padiatrie Und Grenzgebiete, 1990

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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."