Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.D71del1
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TNFRSF1A

NM_001065.4:p.D71del1

Associated Papers

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

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

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."