Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.G247Splc
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F7

NM_019616.4:p.G247Splc

Associated Papers

Coagulation Factor VII Deficiency: A Review of the Clinical Implications and Approaches to Replacement Therapy and Prophylaxis.

Cohan N et al.

Pediatric Blood & Cancer, 2025

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

Bernardi F et al.

Seminars in Thrombosis and Hemostasis, 2025

Structural and functional characterization of novel F7 mutations identified in Chinese factor VII-deficient patients.

Lou C et al.

British Journal of Haematology, 2023

Factor VII deficiency in China: Phenotype, genotype and current status of management.

Qu C et al.

British Journal of Haematology, 2023

Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree.

Feng Y et al.

Genes, 2021

Biochemical, molecular and clinical aspects of coagulation factor VII and its role in hemostasis and thrombosis.

Bernardi F et al.

Haematologica, 2021

Is the coexistence of thromboembolic events and Factor VII deficiency fortuitous?

Giansily-Blaizot M et al.

Thrombosis Research, 2012

Management of kidney transplantation in a factor VII-deficient patient: case report.

Lapecorella M et al.

Transplantation Proceedings, 2012

Functional genetics.

Marchetti G et al.

Thrombosis Research, 2012

RNA-based therapeutic approaches for coagulation factor deficiencies.

Pinotti M et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

Factor VII Deficiency.

Mariani G et al.

Seminars in Thrombosis and Hemostasis, 2009

Clinical phenotypes and factor VII genotype in congenital factor VII deficiency.

Mariani G et al.

Thrombosis and Haemostasis, 2005

Autosomal recessive deficiencies of coagulation factors.

Peyvandi F et al.

Reviews in Clinical and Experimental Hematology, 2001

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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."