Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_assertion> ?p ?o ?g. }
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- NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_assertion type Assertion NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_head.
- NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_assertion description "[Mutations in the extracellular domain of the 55-kD tumor-necrosis factor (TNF) receptor (TNFRSF1A), a key regulator of inflammation, define a periodic-fever syndrome, TRAPS (TNF receptor-associated periodic syndrome [MIM 142680]), which is characterized by attacks of fever, sterile peritonitis, arthralgia, myalgia, skin rash, and/or conjunctivitis; some patients also develop systemic amyloidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_provenance.
- NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_assertion evidence source_evidence_literature NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_provenance.
- NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_assertion SIO_000772 11443543 NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_provenance.
- NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_assertion wasDerivedFrom befree-2016 NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_provenance.
- NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_assertion wasGeneratedBy ECO_0000203 NP323234.RAqUy21r5awFkNlfDZZCCyxrWSQK7N-2FS7EA6KQRecLE130_provenance.