Varaico: Literature-Extracted Genetic Variants

Gene:MEFV
Variant:p.A289V
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MEFV

NM_000243.3:p.A289V

Associated Papers

Genomic Analysis of Response to Neoadjuvant Chemotherapy in Esophageal Adenocarcinoma.

Izadi F et al.

Cancers, 2021

34298611 (PubMed )
Supplement: cancers-13-03394-s001.zip › Supplementary_Files › Supplementary_Tables.xlsx › S11

Whole exome sequencing in unclassified autoinflammatory diseases: more monogenic diseases in the pipeline?

Kosukcu C et al.

Rheumatology (oxford, England), 2021

Integrative multiplatform molecular profiling of benign prostatic hyperplasia identifies distinct subtypes.

Liu D et al.

Nature Communications, 2020

32332823 (PubMed )
Supplement: 41467_2020_15913_MOESM5_ESM.xlsx › Sheet1

Mediterranean fever (MEFV) gene profile and a novel missense mutation (P313H) in Iranian Azari-Turkish patients.

Rostamizadeh L et al.

Annals of Human Genetics, 2020

Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.

Vidmar L et al.

Scientific Reports, 2019

31235738 (PubMed )
Supplement: 41598_2019_45598_MOESM2_ESM.xlsx › Sheet1

Mediterranean fever gene variants and colchicine therapy in periodic fever, aphthous stomatitis pharyngitis, adenitis syndrome in a Mediterranean region.

Haytoglu Z et al.

Expert Review of Clinical Immunology, 2019

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

Van Gijn ME et al.

Journal of Medical Genetics, 2018

Function and mechanism of the pyrin inflammasome.

Heilig R et al.

European Journal of Immunology, 2018

Evidence for genetic overlap between adult onset Still's disease and hereditary periodic fever syndromes.

Sighart R et al.

Rheumatology International, 2018

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

Clinical features and genetic background of the periodic Fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients.

Perko D et al.

Mediators of Inflammation, 2015

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 2014

Novel therapeutics for the treatment of familial Mediterranean fever: from colchicine to biologics.

Grattagliano I et al.

Clinical Pharmacology and Therapeutics, 2014

Association between sequence variations of the Mediterranean fever gene and fibromyalgia syndrome in a cohort of Turkish patients.

Karakus N et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.

Feng J et al.

Plos One, 2009

Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation.

Kümpfel T et al.

Arthritis and Rheumatism, 2007

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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."