Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_assertion> ?p ?o ?g. }
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- NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_assertion type Assertion NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_head.
- NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_assertion wasGeneratedBy ECO_0000203 NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_provenance.
- NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_assertion wasDerivedFrom befree-2016 NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_provenance.
- NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_assertion SIO_000772 15071491 NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_provenance.
- NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_assertion evidence source_evidence_literature NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_provenance.
- NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_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." NP439044.RAvCbsp2oSTYhi6mU-UpbZ6vKgaJ1OuO-xIsoMv7w75CA130_provenance.