Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.V202D
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TNFRSF1A

NM_001065.4:p.V202D

Associated Papers

Cardiovascular manifestations of monogenic periodic fever syndromes.

Sönmez HE et al.

Clinical Rheumatology, 2023

A patient with tumor necrosis factor receptor-associated periodic syndrome misdiagnosed as Kawasaki disease: A case report and literature review.

Gao Y et al.

Heliyon, 2023

Neurological manifestations of autoinflammatory diseases in Chinese adult patients.

Qin W et al.

Seminars in Arthritis and Rheumatism, 2020

Clinical and genetic features of Chinese adult patients with tumour necrosis factor receptor-associated periodic fever syndrome.

Zhao M et al.

Rheumatology (oxford, England), 2020

Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.

Cudrici C et al.

International Journal of Molecular Sciences, 2020

Systemic and organ involvement in monogenic autoinflammatory disorders: a global review filtered through internists' lens.

Cattalini M et al.

Internal and Emergency Medicine, 2016

The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.

Lachmann HJ et al.

Annals of the Rheumatic Diseases, 2014

Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome.

Rigante D et al.

Clinical Rheumatology, 2014

A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin.

Ozen S et al.

Nature Reviews. Rheumatology, 2014

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.

Ter Haar N et al.

Annals of the Rheumatic Diseases, 2013

First report of circulating microRNAs in tumour necrosis factor receptor-associated periodic syndrome (TRAPS).

Lucherini OM et al.

Plos One, 2013

Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.

Caso F et al.

International Journal of Rheumatology, 2013

Setting up TRAPS.

Pettersson T et al.

Annals of Medicine, 2012

Autoinflammatory diseases and cardiovascular manifestations.

Rigante D et al.

Annals of Medicine, 2011

Functional consequences of disease-associated mutations in TNFR1 elucidated by transcriptome analysis.

Rebelo SL et al.

Advances in Experimental Medicine and Biology, 2011

Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercept treatment.

Stojanov S et al.

Annals of the Rheumatic Diseases, 2008

Circulating intercellular adhesion molecule 1 (sICAM-1) in tumour necrosis factor receptor-associated periodic syndrome (TRAPS).

Cantarini L et al.

Clinical and Experimental Rheumatology, 0

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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."