Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.G569A
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NLRP3

NM_001243133.2:p.G569A

Associated Papers

Mechanisms of NLRP3 activation and inhibition elucidated by functional analysis of disease-associated variants.

Feng S et al.

Nature Immunology, 2025

Increased Prevalence of NLRP3 Q703K Variant Among Patients With Autoinflammatory Diseases: An International Multicentric Study.

Theodoropoulou K et al.

Frontiers in Immunology, 2020

Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases.

Kant B et al.

The Journal of Molecular Diagnostics : Jmd, 2019

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

Rusmini M et al.

Annals of the Rheumatic Diseases, 2016

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

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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."