Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.L571F
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NLRP3

NM_001243133.2:p.L571F

Associated Papers

A 9-Year-Old Patient with Recurrent Fever, Urticarial Rash and Demyelinating Brain Lesions: NLRP3-Autoinflammatory Disease in Ecuador.

Herrera CN

Open Access Rheumatology : Research and Reviews, 2022

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

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

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

Lee GS et al.

Nature, 2012

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

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

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."