Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.P464fs
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F7

NM_000131.4:p.P464fs

Associated Papers

Clinical, Laboratory, and Molecular Aspects of Factor VII Deficiency.

Bernardi F et al.

Seminars in Thrombosis and Hemostasis, 2025

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

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

The EAHAD blood coagulation factor VII variant database.

Giansily-Blaizot M et al.

Human Mutation, 2020

Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms.

Pavlova A et al.

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

Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.

Branchini A et al.

Haematologica, 2012

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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."