Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.G304R
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MEFV

NM_000243.3:p.G304R

Associated Papers

Familial Mediterranean Fever Presenting with Recurrent Abdominal Pain without Periodic Fever following COVID-19: A Case Report.

Ueno N et al.

Internal Medicine (tokyo, Japan), 2026

Genetic, and clinical features in Italian and lebanese subjects with familial mediterranean fever (FMF).

Jaber N et al.

European Journal of Internal Medicine, 2026

Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review.

Itoh K et al.

Internal Medicine (tokyo, Japan), 2026

The clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease.

Du Y et al.

Communications Medicine, 2026

Impact of Mediterranean Fever Gene Mutations on Clinical Characteristics in Patients With Inflammatory Bowel Disease.

Nakamura T et al.

Gastro Hep Advances, 2026

Identification of pathogenic MEFV variants in Korean patients with familial Mediterranean fever via whole-genome sequencing: a case report.

Choi SR et al.

Journal of Rheumatic Diseases, 2025

Elderly-onset Familial Mediterranean Fever Carrying MEFV Exon 10 Variants in a Japanese Patient.

Fujita Y et al.

Internal Medicine (tokyo, Japan), 2025

New Diseases Linked to MEFV Variants or Pyrinopathies.

Mertz P et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

Increasing Importance of Genotype-Phenotype Correlations Associated with Common and Rare MEFV Gene Mutations in FMF Patients in the Last Thirty Years.

Yildirim S et al.

Journal of Clinical Medicine, 2025

Mediterranean fever gene variants may prevent the development of lupus nephritis in Japanese patients with systemic lupus erythematosus.

Endo Y et al.

Frontiers in Immunology, 2025

Association of Inflammasome Gene Expression Levels with Pathogenesis of Familial Mediterranean Fever in Armenians.

Hayrapetyan V et al.

International Journal of Molecular Sciences, 2024

Involvement of Mediterranean fever gene mutations in colchicine-responsive enterocolitis: a retrospective cohort study.

Nakase H et al.

Ebiomedicine, 2024

A Case of Familial Mediterranean Fever With Severe Attacks During Withdrawal Bleeding After Controlled Ovarian Hyperstimulation.

Tatara M et al.

Cureus, 2024

Impact of multiple MEFV variants of unknown significance on the diagnosis and clinical presentation of familial Mediterranean fever.

Kishida D et al.

Immunological Medicine, 2024

Single Nucleotide Polymorphisms of the MEFV Gene E148Q Are Highly Associated With Disease Phenotype in Crohn's Disease.

Yamada S et al.

Inflammatory Bowel Diseases, 2024

Generation of iPSCs from a Patient with the M694V Mutation in the MEFV Gene Associated with Familial Mediterranean Fever and Their Differentiation into Macrophages.

Grigor'eva EV et al.

International Journal of Molecular Sciences, 2024

Comparison of Clinical and Genetic Characteristics of Familial Mediterranean Fever Patients Among Adult Age Groups.

Fidan S et al.

The Turkish Journal of Gastroenterology : the Official Journal of Turkish Society of Gastroenterology, 2024

Recurrent Bouts of Fever and Transient Hydrosalpinx Manifested in a Female Carrying MEFV G304R Gene Variant: A Case Report.

Aikawa T et al.

Cureus, 2024

Phenotype-genotype correlation in children with familial Mediterranean fever in Morocco.

Souali M et al.

Qatar Medical Journal, 2024

Osteopontin as an early predictor of atherosclerosis in attack-free Familial Mediterranean fever patients.

Baspinar O et al.

Medicine, 2023

Effectiveness of Colchicine or Canakinumab in Japanese Patients with Familial Mediterranean Fever: A Single-Center Study.

Yoshida S et al.

Journal of Clinical Medicine, 2023

Behçet disease, familial Mediterranean fever and MEFV variations: More than just an association.

Seyahi E et al.

Clinical Immunology (orlando, Fla.), 2023

An Update on Familial Mediterranean Fever.

Lancieri M et al.

International Journal of Molecular Sciences, 2023

Possible Association of Mutations in the MEFV Gene with the Intestinal Phenotype of Behçet's Disease and Refractoriness to Treatment.

Furuta Y et al.

Journal of Clinical Medicine, 2023

Renal involvement, presence of amyloidosis, and genotype-phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study.

Bekis Bozkurt H et al.

European Journal of Pediatrics, 2023

IgA Vasculitis in Japanese Patients Harboring MEFV Mutations: A Case Report and Review of the Literature.

Yokoyama T et al.

Cureus, 2023

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table4.XLS › WES_20220309_T7.JXPES22030004.t

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.

Xie Y et al.

Children (basel, Switzerland), 2022

36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5

Efficacy and safety of canakinumab for colchicine-resistant or colchicine-intolerant familial Mediterranean fever: A single-centre observational study.

Tomokawa T et al.

Modern Rheumatology, 2022

Adult-onset Still's disease during pregnancy that delivered a neonate with haemophagocytic lymphohistiocytosis and severe liver failure requiring liver transplantation: A case report and literature review.

Watanabe E et al.

Modern Rheumatology Case Reports, 2022

Plasminogen gene polymorphisms [c.924C>T and IVS 8+14 G>A] in periodontitis and familial Mediterranean fever: A case-control study.

Fentoğlu Ö et al.

Journal of Periodontal Research, 2022

Genotyping of familial Mediterranean fever gene (MEFV)-Single nucleotide polymorphism-Comparison of Nanopore with conventional Sanger sequencing.

Schmidt J et al.

Plos One, 2022

Effect of Germline MEFV Polymorphisms on the Prognosis of Japanese Children with Cancer: A Regional Analysis.

Hasegawa M et al.

Oncology, 2022

Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.

Jain A et al.

Journal, Genetic Engineering & Biotechnology, 2021

34905135 (PubMed )
Supplement: 43141_2021_268_MOESM2_ESM.xlsx › Sheet1

Familial Mediterranean Fever After Cord Blood Transplantation for Familial Hemophagocytic Lymphohistiocytosis.

Igarashi K et al.

Journal of Pediatric Hematology/oncology, 2021

Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.

Honda Y et al.

Journal of Clinical Immunology, 2021

Gastrointestinal involvement in a patient with familial Mediterranean fever mimicking Crohn's disease: a case report.

Yokoyama Y et al.

Clinical Journal of Gastroenterology, 2021

Genetic and clinical characteristics associated with efficacy and retention rates of colchicine in Japanese patients with familial Mediterranean fever: A single-center observational study.

Hara K et al.

Modern Rheumatology, 2021

Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.

Guzel F et al.

Frontiers in Immunology, 2021

Neurological manifestations of autoinflammatory diseases in Chinese adult patients.

Qin W et al.

Seminars in Arthritis and Rheumatism, 2020

Familial Mediterranean fever, from pathogenesis to treatment: a contemporary review

Tufan A et al.

Turkish Journal of Medical Sciences, 2020

NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence.

Del Porto F et al.

Rheumatology (oxford, England), 2020

Characteristics of patients with familial Mediterranean fever in Denmark: a retrospective nationwide register-based cohort study.

Mortensen SB et al.

Scandinavian Journal of Rheumatology, 2020

Spectrum of MEFV Variants and Genotypes among Clinically Diagnosed FMF Patients from Southern Lebanon.

El Roz A et al.

Medical Sciences (basel, Switzerland), 2020

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