Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.R121P
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TNFRSF1A

NM_001065.4:p.R121P

Associated Papers

Insights into the multifaceted role of interleukin-37 on human immune cell regulation.

Teufel LU et al.

Clinical Immunology (orlando, Fla.), 2024

Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.

Delaleu J et al.

Rheumatology (oxford, England), 2021

Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases.

Sözeri B et al.

Clinical Rheumatology, 2021

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

Cudrici C et al.

International Journal of Molecular Sciences, 2020

An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Zhao J et al.

Genome Medicine, 2018

29378629 (PubMed )
Supplement: 13073_2018_513_MOESM4_ESM.xlsx › Sheet1

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

Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept.

Arkwright PD et al.

Clinical and Experimental Immunology, 2002

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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."