Varaico: Literature-Extracted Genetic Variants

Gene:NLRP3
Variant:p.N77I
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NLRP3

NM_001243133.2:p.N77I

Associated Papers

PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?

Whiteside BG et al.

Pediatric Rheumatology Online Journal, 2022

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.

Smith EJ et al.

Current Genomics, 2010

Genetics of inflammasome-associated disorders: a lesson in the guiding principals of inflammasome function.

Rodrigue-Gervais IG et al.

European Journal of Immunology, 2010

Dysregulation of innate immunity: hereditary periodic fever syndromes.

Bodar EJ et al.

British Journal of Haematology, 2009

Familial autoinflammatory diseases: genetics, pathogenesis and treatment.

Stojanov S et al.

Current Opinion in Rheumatology, 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."