Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.A439T
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NLRP3

NM_001243133.2:p.A439T

Associated Papers

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

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

Feng S et al.

Nature Immunology, 2025

Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.

Miyamoto T et al.

Arthritis & Rheumatology (hoboken, N.j.), 2024

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

Cosson C et al.

The Journal of Experimental Medicine, 2024

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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."