Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.D2222G
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F5

NM_000130.5:p.D2222G

Associated Papers

Congenital factor V deficiency in a pediatric patient causing mild hemorrhage.

Zhang H et al.

Hematology (amsterdam, Netherlands), 2025

F5 6665A>G Polymorphism Is Associated with Increased Risk of Venous Thromboembolism in Females.

Teofilov S et al.

International Journal of Molecular Sciences, 2025

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Molecular and clinical characterization of two unrelated families with factor V deficiency, including a novel nonsense variant (p.Gln1532*).

Zhang K et al.

Blood Cells, Molecules & Diseases, 2024

Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.

Chen Y et al.

Hamostaseologie, 2023

Clinical Characterization and Molecular Analysis of Fourteen Chinese Patients with Factor V Deficiency.

Zhang K et al.

Hamostaseologie, 2023

Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813 ∗ and two variants specific to East Asians.

Lin HY et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2023

A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency.

Chang YS et al.

Frontiers in Medicine, 2022

Hereditary factor V deficiency from heterozygous mutations with a novel variant p.Pro798Leufs∗13 in the F5 gene.

Deng Y et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2021

High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.

Bernal S et al.

International Journal of Molecular Sciences, 2021

Prevalence of rare F5 variants in general population from Bosnia and Herzegovina.

Ašić A et al.

Molecular Biology Reports, 2021

Identification of the Novel Variants in Patients With Chronic Thromboembolic Pulmonary Hypertension.

Yaoita N et al.

Journal of the American Heart Association, 2020

Investigation of discordant phenotype in mild Hemophilia A using whole exome sequencing.

Cygan PH et al.

Thrombosis Research, 2020

A Genome Wide Association Study on plasma FV levels identified PLXDC2 as a new modifier of the coagulation process.

Thibord F et al.

Journal of Thrombosis and Haemostasis : Jth, 2019

MTHFR and F5 genetic variations have association with preeclampsia in Pakistani patients: a case control study.

Khidri FF et al.

Bmc Medical Genetics, 2019

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

[Hereditary coagulation factor VII deficiency in a case].

Chen SY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005

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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."