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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom GAD provenance.
- assertion SIO_000772 15071491 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated periodic syndrome (TRAPS) complicated by amyloid in two separate multiplex TRAPS families containing 5 and 16 affected members respectively, and the single patient with Muckle-Wells syndrome who had amyloidosis was homozygous for this variant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.