Varaico: Literature-Extracted Genetic Variants

Gene:F7
Variant:p.L19L
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F7

NM_019616.4:p.L19L

Associated Papers

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

38397060 (PubMed )
Supplement: ijms-25-02384-s001.zip › ijms-2842726-supplementary.xlsx › Tabl1

Genotype-Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study.

Halimeh S et al.

Journal of Clinical Medicine, 2023

38202056 (PubMed )
Supplement: jcm-13-00049-s001.zip › jcm-2671474-supplementary.pdf

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

Pshenichnikova O et al.

Genes, 2023

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 Due to Compound Heterozygosity for the p.Leu13Pro Mutation and a Novel Mutation in the HNF4 Binding Region (-58G>C) in the F7 Promoter.

Osaki K et al.

The Kurume Medical Journal, 2022

Familial Multiple Coagulation Factor Deficiencies (FMCFDs) in a Large Cohort of Patients-A Single-Center Experience in Genetic Diagnosis.

Preisler B et al.

Journal of Clinical Medicine, 2021

The EAHAD blood coagulation factor VII variant database.

Giansily-Blaizot M et al.

Human Mutation, 2020

Factor VII Gene Defects: Review of Functional Studies and Their Clinical Implications

Shahbazi S et al.

Iranian Biomedical Journal, 2019

Isotypic analysis of antibodies against activated Factor VII in patients with Factor VII deficiency using the x-MAP technology.

Pfeiffer C et al.

Thrombosis Research, 2016

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

The effects of uncoupling protein 3 haplotypes on obesity phenotypes and very low-energy diet-induced changes among overweight Korean female subjects.

Cha MH et al.

Metabolism: Clinical and Experimental, 2006

Factor VII deficiency and the FVII mutation database.

McVey JH et al.

Human Mutation, 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."