Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.Y49H
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TNFRSF1A

NM_001065.4:p.Y49H

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 infevers autoinflammatory mutation online registry: update with new genes and functions.

Milhavet F et al.

Human Mutation, 2008

"Periodic fever" without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis.

Kallinich T et al.

Annals of the Rheumatic Diseases, 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."