Varaico: Literature-Extracted Genetic Variants

Gene:TNF
Variant:p.C30Y
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TNF

NM_000594.4:p.C30Y

Associated Papers

Lung Involvement in Children with Hereditary Autoinflammatory Disorders.

Tarantino G et al.

International Journal of Molecular Sciences, 2016

Clinical and Genetic Features of Patients With TNFRSF1A Variants in Japan: Findings of a Nationwide Survey.

Ueda N et al.

Arthritis & Rheumatology (hoboken, N.j.), 2016

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

Early Onset of Periodic Fever Syndrome in a Patient Carrying Both Tumor Necrosis Factor Receptor Superfamily 1A and Mediterranean Fever Mutations.

Kraszewska-Głomba B et al.

Archives of Rheumatology, 2016

Recurrent abdominal pain as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in an Asian girl: a case report and review of the literature.

Chen YJ et al.

Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2014

[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

Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family.

Takagi K et al.

Modern Rheumatology, 2007

Tumor necrosis factor receptor-associated periodic syndrome mimicking systemic juvenile idiopathic arthritis.

Manki A et al.

Allergology International : Official Journal of the Japanese Society of Allergology, 2006

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

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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."