NLRP3 A439V mutation in a large family with cryopyrin-associated periodic syndrome
Kuemmerle-Deschner JB, Verma D, Grom AA, et al.
J Rheumatol · 2016
Key Findings
- ●Detailed phenotypic description across large CAPS kindred
- ●Variable expressivity with same mutation
Referenced in (1 disease)
Validation history
Full log →- passsource metadataJun 1, 2026, 01:59 PMby pubmed-api
PMID/DOI resolved and recorded from PubMed E-utilities during SEO DOI backfill.
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ID: pmid-27134254DOI: 10.3899/jrheum.150681PMID: 27134254