Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.R513K
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F5

NM_000130.5:p.R513K

Associated Papers

[Analysis of two Chinese pedigrees affected with Hereditary factor V deficiency due to compound heterozygous variants of F5 gene].

Mao P et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

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

Zhang K et al.

Hamostaseologie, 2023

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

The pharmacogenomic landscape of an Indigenous Australian population.

Samarasinghe SR et al.

Frontiers in Pharmacology, 2023

37284308 (PubMed )
Supplement: Table3.xlsx › HGMD-ClinVar_14_known_variants

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

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1

A novel mutation (Ser951LeufsTer8) in F5 gene leads to hereditary coagulation factor V deficiency.

Su K et al.

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

Exome Sequencing Reveals Common and Rare Variants in F5 Associated With ACE Inhibitor and Angiotensin Receptor Blocker-Induced Angioedema.

Maroteau C et al.

Clinical Pharmacology and Therapeutics, 2020

Novel single nucleotide mutations in exon-10 of human coagulation Factor V gene in patients with pulmonary thromboembolism.

Kasala L et al.

Journal of Cardiovascular and Thoracic Research, 2020

A Comprehensive Overview of Coagulation Factor V and Congenital Factor V Deficiency.

Tabibian S et al.

Seminars in Thrombosis and Hemostasis, 2019

Factor V Deficiency with a Thrombotic Clinical Phenotype.

Sridharan M et al.

Seminars in Thrombosis and Hemostasis, 2019

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

Variants in chondroitin sulfate metabolism genes in thrombotic storm.

Nuytemans K et al.

Thrombosis Research, 2018

Acquired factor V deficiency in a patient with a urinary tract infection presenting with haematuria followed by multiple haemorrhages with an extremely low level of factor V inhibitor: a case report and review of the literature.

Wang X et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2017

Targeted next-generation resequencing of f5 gene identifies novel multiple variants pattern in severe hereditary factor v deficiency.

Janicki PK et al.

Case Reports in Genetics, 2013

Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.

Kokubo Y et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2006

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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."