Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.E85_E93del0
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TNFRSF1A

NM_001065.4:p.E85_E93del0

Associated Papers

Efficacy of canakinumab for mosaic tumor necrosis factor receptor associated periodic syndrome.

Terré A et al.

European Journal of Internal Medicine, 2024

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

Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.

Assrawi E et al.

Rheumatology (oxford, England), 2022

Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Gaggiano C et al.

Mediators of Inflammation, 2019

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Omoyinmi E et al.

Plos One, 2017

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

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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."