Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.L411L
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NLRP3

NM_001243133.2:p.L411L

Associated Papers

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism.

Bonet N et al.

Journal of Clinical Immunology, 2025

41026232 (PubMed )
Supplement: 10875_2025_1922_MOESM1_ESM.docx

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Sharma P et al.

Frontiers in Genetics, 2021

34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1

Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.

Labrousse M et al.

Critical Reviews in Clinical Laboratory Sciences, 2018

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

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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."