Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.L39F
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NLRP3

NM_001243133.2:p.L39F

Associated Papers

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Papa R et al.

Orphanet Journal of Rare Diseases, 2017

The diagnostic evaluation of patients with a suspected hereditary periodic fever syndrome: experience from a referral center in Italy.

Vitale A et al.

Internal and Emergency Medicine, 2017

Dysregulation of innate immunity: hereditary periodic fever syndromes.

Bodar EJ et al.

British Journal of Haematology, 2009

Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome.

Kimberley FC et al.

Arthritis Research & Therapy, 2007

The tumour necrosis factor receptor-associated periodic syndrome: current concepts.

Stojanov S et al.

Expert Reviews in Molecular Medicine, 2005

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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."