Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.Q306L
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NLRP3

NM_001243133.2:p.Q306L

Associated Papers

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

The inflammasomes in health and disease: from genetics to molecular mechanisms of autoinflammation and beyond.

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

Inflammasome-associated nucleotide-binding domain, leucine-rich repeat proteins and inflammatory diseases.

Jha S et al.

Journal of Immunology (baltimore, Md. : 1950), 2009

The cytosolic pattern-recognition receptor Nod2 and inflammatory granulomatous disorders.

Kambe N et al.

Journal of Dermatological Science, 2005

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases.

Aksentijevich I et al.

Arthritis and Rheumatism, 2002

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.

Feldmann J et al.

American Journal of Human Genetics, 2002

Bridging the gap between the clinician and the patient with cryopyrin-associated periodic syndromes.

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."