Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.R761H
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MEFV

NM_000243.3:p.R761H

Associated Papers

Machine learning algorithms for predicting colchicine resistance in familial Mediterranean fever.

Öztürk A et al.

Rheumatology (oxford, England), 2026

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

Evaluation of pediatric FMF patients with biallelic pathogenic exon 10 variants: focus on chest pain.

Tunce E et al.

European Journal of Pediatrics, 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

Long-Term outcomes of children diagnosed with indeterminate colitis.

Cetinoglu S et al.

Arab Journal of Gastroenterology : the Official Publication of the Pan-arab Association of Gastroenterology, 2026

Cachexia as an unusual presentation of familial Mediterranean fever: A case report.

Sira AM et al.

World Journal of Clinical Cases, 2026

The Relationship Between Gene Subtypes, Symptoms, and Cardiac Function in Patients with Familial Mediterranean Fever.

Kızılkaya B et al.

Journal of Clinical Medicine, 2026

Is the decision maker a key determinant of colchicine withdrawal success in paediatric heterozygous familial Mediterranean fever patients?

Özomay Baykal G et al.

Scandinavian Journal of Rheumatology, 2026

Impact of MEFV gene variants on clinical presentation in Familial Mediterranean Fever: A focus on Exon 2 mutations.

Kulaksiz B et al.

Reumatologia Clinica, 2026

Growth and pubertal development in children with familial Mediterranean fever under colchicine therapy.

Bayrak Demirel O et al.

European Journal of Pediatrics, 2025

Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.

Huang C et al.

Annals of Medicine, 2025

39757988 (PubMed )
Supplement: IANN_A_2447421_SM2148.zip › suppl_data › Table_S3.xlsx › Table_S3

[Use of IL-1 inhibitors in the treatment of familial Mediterranean fever in pediatric rheumatology].

Hillekamp C et al.

Zeitschrift Fur Rheumatologie, 2025

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

Different arthritis patterns in pediatric familial Mediterranean fever: Focus on exon 10 biallelic pathogenic genotypes.

Tunce E et al.

Joint Bone Spine, 2025

Non-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort.

Giat E et al.

Seminars in Arthritis and Rheumatism, 2025

The impact of homozygous mutations in exon 10 on musculoskeletal findings in children with familial mediterranean fever.

Ozbakir C et al.

European Journal of Pediatrics, 2025

Neurological involvement in children with familial Mediterranean fever: a systematic review.

La Bella S et al.

Pediatric Rheumatology Online Journal, 2025

Nutritional status in children with familial Mediterranean fever.

Bahçeci O et al.

Postgraduate Medicine, 2025

Predicting homozygous M694V genotype in paediatric FMF: multicentre analysis and scoring system proposal.

Tunce E et al.

Rheumatology (oxford, England), 2025

R202Q homozygosity of Mediterranean fever gene is associated with atypical clinical phenotype of familial Mediterranean fever.

Sagris D et al.

European Journal of Internal Medicine, 2025

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Characteristics and outcomes of adult patients with familial Mediterranean fever: Comparison of patients with one versus two pathogenic exon 10 MEFV mutations.

Dumont A et al.

Joint Bone Spine, 2025

Pediatric Immunoglobulin A Vasculitis: Impact of Mediterranean Fever Gene Variants on Clinical Course and Inflammatory Markers.

Tunce E et al.

Turkish Archives of Pediatrics, 2025

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

Fujita Y et al.

Internal Medicine (tokyo, Japan), 2025

Role of Mutual Information Profile Shifts in Assessing the Pathogenicity of Mutations on Protein Functions: The Case of Pyrin Variants Associated With Familial Mediterranean Fever.

Hacisuleyman A et al.

Proteins, 2025

Childhood Familial Mediterranean Fever in the United States: Spectrum of Clinical Phenotypes and MEFV Genotypes in a Cohort From Southeast Michigan.

Fathalla BM et al.

Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases, 2025

Unexpectedly high prevalence of familial Mediterranean fever in Slovakia.

Jesenak M et al.

Clinical and Experimental Medicine, 2025

Renal outcomes and survival in amyloidosis associated with familial Mediterranean fever: A longitudinal study.

Ozeri DJ et al.

Seminars in Arthritis and Rheumatism, 2025

Genetic and clinical features of familial Mediterranean fever in a cohort of patients with kidney failure.

Sheyyab A et al.

Journal of Nephrology, 2025

Familial Mediterranean Fever; Recent Advances, Future Prospectives.

Romano M et al.

Diagnostics (basel, Switzerland), 2025

A treatment algorithm for familial Mediterranean fever patients with menstruation-associated attacks.

Batu ED et al.

Rheumatology (oxford, England), 2025

In Silico Study of Pyrin and 14-3-3 Protein Modulation During FMF and PAAND.

Paronyan A et al.

Acs Omega, 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

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

The effect of gene dosage and age at the disease onset on the severity of familial Mediterranean fever.

Polat MC et al.

Postgraduate Medicine, 2025

Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.

Guo D et al.

Frontiers in Genetics, 2025

Exploring the Role of MEFV Gene Mutations in Pediatric Drug-Resistant Epilepsy.

Habibi A et al.

Iranian Journal of Child Neurology, 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

The journey of MEFV heterozygous children: with or without colchicine.

Çakan M et al.

European Journal of Pediatrics, 2024

Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.

Elhani I et al.

Rmd Open, 2024

Familial Mediterranean Fever-Associated Retinal Vasculitis: A Rare Manifestation Successfully Managed with IL-1 Pathway Inhibitors.

Anglada-Masferrer N et al.

Ocular Immunology and Inflammation, 2024

Characteristics of arthritis in patients with familial Mediterranean fever.

Yenigun S et al.

Internal Medicine Journal, 2024

Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.

Ding X et al.

Clinical and Translational Medicine, 2024

39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3

WES-based screening of 7,000 newborns: A pilot study in Russia.

Shubina J et al.

Hgg Advances, 2024

39033325 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Cost-saving approach with screening of selected variants in genetic diagnosis in Turkish pediatric familial Mediterranean fever patients: a single center longitudinal study.

Sözeri B et al.

The Turkish Journal of Pediatrics, 2024

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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."