Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.L632F
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NLRP3

NM_001243133.2:p.L632F

Associated Papers

Phenotypic and genotypic characterization of Chinese adult patients with NLRP3-associated autoinflammatory disease with hearing loss.

Wu B et al.

Rheumatology (oxford, England), 2024

The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease.

Wu N et al.

Clinical Rheumatology, 2023

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

Neurology of the cryopyrin-associated periodic fever syndrome.

Parker T et al.

European Journal of Neurology, 2016

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

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

Conforti-Andreoni C et al.

Cellular & Molecular Immunology, 2011

The anesthetic management of children with neonatal-onset multi-system inflammatory disease.

Lauro CF et al.

Anesthesia and Analgesia, 2007

The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model.

Aksentijevich I et al.

Arthritis and Rheumatism, 2007

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.

Neven B et al.

Blood, 2004

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."