Varaico: Literature-Extracted Genetic Variants

Gene:TNF
Variant:p.C30S
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TNF

NM_000594.4:p.C30S

Associated Papers

[TRAPS: clinical significance of genotype. A report of two cases].

Lahaxe L et al.

La Revue De Medecine Interne, 2010

Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS).

Jacobelli S et al.

Rheumatology (oxford, England), 2007

Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene.

Ravet N et al.

Annals of the Rheumatic Diseases, 2006

Intestinal pseudo-obstruction as a manifestation of tumor necrosis factor receptor-associated periodic syndrome.

Marie I et al.

Digestive Diseases and Sciences, 2006

[The "self-inflammatory syndrome"].

Pradalier A et al.

Pathologie-biologie, 2006

The systemic autoinflammatory diseases: inborn errors of the innate immune system.

Brydges S et al.

Current Topics in Microbiology and Immunology, 2006

The tumour necrosis factor receptor-associated periodic syndrome: current concepts.

Stojanov S et al.

Expert Reviews in Molecular Medicine, 2005

Myocarditis and sacroiliitis: 2 previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome.

Trost S et al.

The Journal of Rheumatology, 2005

Inherited disorders of cytokines.

Picard C et al.

Current Opinion in Pediatrics, 2004

[Hereditary periodic fever].

Lamprecht P et al.

Der Internist, 2004

A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis.

Broeders EN et al.

American Journal of Medical Genetics. Part A, 2004

Hereditary periodic fever.

Drenth JP et al.

The New England Journal of Medicine, 2001

The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.

Aksentijevich I et al.

American Journal of Human Genetics, 2001

Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication.

Jadoul M et al.

Kidney International, 2001

Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders.

Cantarini L et al.

International Journal of Immunopathology and Pharmacology, 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."