Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.L30Q
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TNFRSF1A

NM_001065.4:p.L30Q

Associated Papers

Characterization of pneumococcal Ser/Thr protein phosphatase phpP mutant and identification of a novel PhpP substrate, putative RNA binding protein Jag.

Ulrych A et al.

Bmc Microbiology, 2016

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2011

[Progress in classification and treatment for TNF receptor-associated periodic syndrome].

Tsukamoto H et al.

Nihon Rinsho Men'eki Gakkai Kaishi = Japanese Journal of Clinical Immunology, 2011

A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome.

Saulsbury FT 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."