Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.E567A
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NLRP3

NM_001243133.2:p.E567A

Associated Papers

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

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

Nakagawa K et al.

Annals of the Rheumatic Diseases, 2015

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."