Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.V351L
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NLRP3

NM_001243133.2:p.V351L

Associated Papers

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

Feng S et al.

Nature Immunology, 2025

39930093 (PubMed )
Supplement: 41590_2025_2088_MOESM3_ESM.xlsx › Table_1

CAPS and NLRP3.

Booshehri LM et al.

Journal of Clinical Immunology, 2019

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

Sarrabay G et al.

Expert Review of Clinical Immunology, 2015

[Report of a child with neonatal-onset multisystem inflammatory disease and review of the literature].

Guan N et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014

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

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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."