Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.D648Y
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NLRP3

NM_004895.5:p.D648Y

Associated Papers

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

Feng S et al.

Nature Immunology, 2025

Genetic variants in patients with recurrent pericarditis.

Imazio M et al.

Journal of Cardiovascular Medicine (hagerstown, Md.), 2024

Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.

Cosson C et al.

The Journal of Experimental Medicine, 2024

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."