Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.F89L
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TNFRSF1A

NM_001065.4:p.F89L

Associated Papers

Unmasking Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS): Diagnostic pitfalls of de novo mutations.

Zhu YY et al.

The Journal of Allergy and Clinical Immunology. in Practice, 2025

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

Improving Diagnosis and Clinical Management of Acquired Systemic Autoinflammatory Diseases.

Al-Hakim A et al.

Journal of Inflammation Research, 2022

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

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

Somatic mosaicism in adult-onset TNF receptor-associated periodic syndrome (TRAPS).

Kontzias A et al.

Molecular Genetics & Genomic Medicine, 2019

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."