Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.T90I
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TNFRSF1A

NM_001065.4:p.T90I

Associated Papers

A patient with tumor necrosis factor receptor-associated periodic syndrome misdiagnosed as Kawasaki disease: A case report and literature review.

Gao Y et al.

Heliyon, 2023

TRAPS mutations in Tnfrsf1a decrease the responsiveness to TNFα via reduced cell surface expression of TNFR1.

Akagi T et al.

Frontiers in Immunology, 2022

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

Accurate clinical genetic testing for autoinflammatory diseases using the next-generation sequencing platform MiSeq.

Nakayama M et al.

Biochemistry and Biophysics Reports, 2017

A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.

Yasumura J et al.

Modern Rheumatology, 2016

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature.

Washio M et al.

Modern Rheumatology, 2013

Japanese single nucleotide polymorphism database for 267 possible drug-related genes.

Iida A et al.

Cancer Science, 2006

[SNP collection, pharmacogenomics, and the future of drug therapy].

Iida A et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002

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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."