Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.C84R
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TNFRSF1A

NM_001065.4:p.C84R

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

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

Cudrici C et al.

International Journal of Molecular Sciences, 2020

Treating TNF Receptor Associated Periodic Fever Syndrome in End-Stage Renal Failure.

Coutinho J et al.

Case Reports in Nephrology, 2019

First Case of TNF-Receptor-Associated Autoinflammatory Syndrome (TRAPS) in Bulgaria.

Solakov PT

Folia Medica, 2016

A nephrotic patient with tumour necrosis factor receptor-associated periodic syndrome, IgA nephropathy and CNS involvement.

Rudofsky G et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006

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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."