Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.C72Y
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TNFRSF1A

NM_001065.4:p.C72Y

Associated Papers

Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS).

Subervie A et al.

Orphanet Journal of Rare Diseases, 2025

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

Autosomal dominant familial periodic fever patient with a missense variant c.215G>A (p.Cys72Tyr) in TNFRSF1A gene presenting as neutrophilia.

Rajpal S et al.

European Journal of Medical Genetics, 2021

Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience.

Suri D et al.

Frontiers in Immunology, 2021

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

Cudrici C et al.

International Journal of Molecular Sciences, 2020

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

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."