Varaico: Literature-Extracted Genetic Variants

Gene:F5
Variant:p.R534Q
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F5

NM_000130.5:p.R534Q

Associated Papers

Distribution of Thrombophilia-Related Genetic Polymorphisms in Women with Reproductive Disorders.

Kurmanova A et al.

Biomedicines, 2026

Factor V Leiden Mutation Diagnosed After the Onset of DVT During Pregnancy in a Woman of Half-Japanese, Half-European Descent.

Shimizu K et al.

Internal Medicine (tokyo, Japan), 2026

Whole-Exome Sequencing of Total Joint Arthroplasty Patients Who Have Known Pulmonary Embolism: A Pilot Study.

Mayfield CK et al.

The Journal of Arthroplasty, 2026

Clinical, Molecular, and Bioinformatic Study of Common Thrombophilia Mutation Factor V Leiden.

Angelopoulou A et al.

Advances in Experimental Medicine and Biology, 2026

Clinical, Molecular and Bioinformatic Study of Common Thrombophilia Mutation Factor V Leiden.

Angelopoulou A et al.

Advances in Experimental Medicine and Biology, 2026

Development of a comprehensive cardiovascular disease genetic risk assessment test.

Amendola LM et al.

Genetics in Medicine Open, 2026

Genome-wide association studies in chronic venous disease: A systematic review.

Soh CL et al.

Journal of Vascular Surgery. Venous and Lymphatic Disorders, 2025

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.

Mitchell BD et al.

American Journal of Medical Genetics. Part A, 2025

Genetics and context for precision health in Greater Boston.

Koyama S et al.

Nature Communications, 2025

Development of a MassARRAY Genotyping Platform and Its Clinical Application for Venous Thromboembolism Risk Assessment in Thai Patients.

Apipongrat D et al.

Medical Sciences (basel, Switzerland), 2025

Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.

Bereczky Z et al.

Genes, 2025

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.

Kaplanis J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

40684348 (PubMed )
Supplement: mmc8.xlsx › Sheet1

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.

Koç Yekedüz M et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR

Polygenic risk score to define risk of cancer-associated thrombosis among patients with lung cancer in a population-based study.

Tafur A et al.

Lung Cancer (amsterdam, Netherlands), 2025

Protein S Gene Mutation: Potential Mechanism of Cerebral Venous Sinus Thrombosis in Patients With Dural Arteriovenous Fistula.

Song Z et al.

Neurosurgery, 2025

Brisk Walking Pace Offsets Venous Thromboembolism Risk Equivalent to Established Monogenic Mutations.

Xian W et al.

Thrombosis and Haemostasis, 2025

Diagnosing protein S deficiency - Navigating challenges.

Hansen RS et al.

Clinical Biochemistry, 2025

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.∗97G>A), 2025 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Kang BE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13.

Lokki AI et al.

Research Square, 2025

Postpartum maternal thrombophilia workup value in pregnancies with severe small for gestational age.

Abgral M et al.

Acta Obstetricia Et Gynecologica Scandinavica, 2025

Genomic alterations in normal breast tissues preceding breast cancer diagnosis.

Dai J et al.

Breast Cancer Research : Bcr, 2025

40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S2

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

Teofilov S et al.

International Journal of Molecular Sciences, 2025

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.

Gimeno AF et al.

American Journal of Medical Genetics. Part A, 2025

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Mighton C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Clinical utility of panel-based genetic sequencing for von Willebrand disease.

Ramanan R et al.

Research and Practice in Thrombosis and Haemostasis, 2025

40242192 (PubMed )
Supplement: mmc1.xlsx › Participant_data

Modulation of Haemostatic Balance in Combined von Willebrand Disease and Antithrombin Deficiency: A Comprehensive Family Study.

Pezeshkpoor B et al.

Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025

Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.

Palao B et al.

Frontiers in Genetics, 2025

Thrombophilia Screening: Not So Straightforward.

Moore GW

Seminars in Thrombosis and Hemostasis, 2024

Prevalence of actionable pharmacogenetic variants and high-risk drug prescriptions: A Swiss hospital-based cohort study.

Hodel F et al.

Clinical and Translational Science, 2024

Development of a comprehensive cardiovascular disease genetic risk assessment test.

Amendola LM et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands study.

Willems SPE et al.

Research and Practice in Thrombosis and Haemostasis, 2024

Genetic associations of protein-coding variants in venous thromboembolism.

He XY et al.

Nature Communications, 2024

To Test or Not to Test: Routine Thrombophilia Diagnostic Screening of Women with Reproductive Failures.

Wysocka U et al.

Journal of Clinical Medicine, 2023

Polymorphisms of ACE and thrombophilic genes: risk for recurrent pregnancy loss.

Miljanović O et al.

Journal of Clinical Pathology, 2023

Actionable Genotypes and Their Association with Life Span in Iceland.

Jensson BO et al.

The New England Journal of Medicine, 2023

Decoding Genetics, Ancestry, and Geospatial Context for Precision Health.

Koyama S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Risk assessment of venous thromboembolism in inflammatory bowel disease by inherited risk in a population-based incident cohort.

Rifkin AS et al.

World Journal of Gastroenterology, 2023

Cancer-associated thrombosis by cancer sites and inherited factors in a prospective population-based cohort.

Shi Z et al.

Thrombosis Research, 2023

Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.

Avnat E et al.

Genes, 2023

Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism.

Ghouse J et al.

Nature Genetics, 2023

Homozygous Carriers of F2 c.20210G>A Variant: A Report of Two Cases and Literature Review.

Raymond CM et al.

Cureus, 2023

Maternal Thrombophilic and Hypofibrinolytic Genetic Variants in Idiopathic Recurrent Pregnancy Loss: a Continuing Mystery.

Younis M et al.

Reproductive Sciences (thousand Oaks, Calif.), 2023

A new enrichment approach for candidate gene detection in unexplained recurrent pregnancy loss and implantation failure.

Berkay EG et al.

Molecular Genetics and Genomics : Mgg, 2023

Factor V Leiden but not the factor II 20210G>A mutation is a risk factor for premature coronary artery disease: a case-control study in Iran.

Agosti P et al.

Research and Practice in Thrombosis and Haemostasis, 2023

Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.

Srivastava P et al.

Frontiers in Genetics, 2023

Genetic Variants Associated with High Susceptibility of Premature Ischemic Stroke.

Isordia-Salas I et al.

Journal of the Renin-angiotensin-aldosterone System : Jraas, 2023

Genetic markers for inherited thrombophilia related pregnancy loss and implantation failure in Indian population - implications for diagnosis and clinical management.

Udumudi A et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2022

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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."