Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF1A
Variant:p.C99S
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TNFRSF1A

NM_001065.4:p.C99S

Associated Papers

Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS).

Subervie A et al.

Orphanet Journal of Rare Diseases, 2025

Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.

Wang W et al.

Frontiers in Immunology, 2020

[A family of tumor necrosis factor receptor-associated periodic syndrome].

Li S et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File011.xls › TypeI_
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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."