Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.E85D
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TNFRSF1A

NM_001065.4:p.E85D

Associated Papers

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

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

Van Gijn ME et al.

Journal of Medical Genetics, 2018

Molecular genetic analysis for periodic fever syndromes: a supplemental role for the diagnosis of adult-onset Still's disease.

Li H et al.

Clinical Rheumatology, 2018

Macrophage activation syndrome as the initial manifestation of tumour necrosis factor receptor 1-associated periodic syndrome (TRAPS).

Horneff G et al.

Clinical and Experimental Rheumatology, 0

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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."