Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.L196_G204del0
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TNFRSF1A

NM_001065.4:p.L196_G204del0

Associated Papers

Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network.

Gaggiano C et al.

Mediators of Inflammation, 2020

Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey.

Ueda N et al.

Arthritis & Rheumatology (hoboken, N.j.), 2016

Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion.

Rowczenio DM et al.

Arthritis & Rheumatology (hoboken, N.j.), 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

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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."