Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.F293_S295del3
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TNFRSF1A

NM_001065.4:p.F293_S295del3

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

A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS).

Churchman SM et al.

Annals of the Rheumatic Diseases, 2008

The tumour necrosis factor receptor-associated periodic syndrome: current concepts.

Stojanov S et al.

Expert Reviews in Molecular Medicine, 2005

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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."