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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.
Sarrabay G et al.
Expert Review of Clinical Immunology, 2015
New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes.
Maksimovic L et al.
Rheumatology (oxford, England), 2008
PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation.
Jéru I et al.
Arthritis and Rheumatism, 2006
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