Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.C117R
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TNFRSF1A

NM_001065.4:p.C117R

Associated Papers

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

Cudrici C et al.

International Journal of Molecular Sciences, 2020

Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.

Tsuji S et al.

Clinical and Experimental Immunology, 2019

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

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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."