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Pyrin variant E148Q potentiates inflammasome activation and the effect of pathogenic mutations in cis.

Rheumatology (Oxford) · 2024 · PMC10907813 · PMID 37481715

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showed a trendno p-value reported
Stimulating those cells with TcdB showed a trend towards inflammasome formation when p.E148Q was combined with pathogenic FMF mutations for p.M694I and p.V726A.

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