Varaico: Literature-Extracted Genetic Variants

Gene:SIGLEC7
Variant:p.R92Q
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SIGLEC7

NM_014385.4:p.R92Q

Associated Papers

Anakinra and canakinumab for patients with R92Q-associated autoinflammatory syndrome: a multicenter observational study from the AIDA Network.

Gaggiano C et al.

Therapeutic Advances in Musculoskeletal Disease, 2021

Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide.

Soriano A et al.

Frontiers in Immunology, 2020

Tumor necrosis factor receptor-associated periodic syndrome: toward a molecular understanding of the systemic autoinflammatory diseases.

Ryan JG et al.

Arthritis and Rheumatism, 2009

Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome.

Gattorno M et al.

Arthritis and Rheumatism, 2008

TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder.

Rezaei N

Clinical Rheumatology, 2006

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

Stojanov S et al.

Expert Reviews in Molecular Medicine, 2005

Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet's disease.

Amoura Z et al.

Arthritis and Rheumatism, 2005

Polymorphism R92Q of the tumour necrosis factor receptor 1 gene is associated with myocardial infarction and carotid intima-media thickness--the ECTIM, AXA, EVA and GENIC Studies.

Poirier O et al.

European Journal of Human Genetics : Ejhg, 2004

The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.

Hull KM et al.

Medicine, 2002

Role of etanercept in the treatment of tumor necrosis factor receptor-associated periodic syndrome: personal experience and review of the literature.

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."