Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_assertion> ?p ?o ?g. }
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- NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_assertion type Assertion NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_head.
- NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_assertion description "[CANDLE syndrome is caused by mutations in PSMB8, a gene recently reported to cause 'JMP' syndrome (joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced childhood-onset lipodystrophy) in adults.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_provenance.
- NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_assertion evidence source_evidence_curated NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_provenance.
- NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_assertion SIO_000772 21953331 NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_provenance.
- NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_assertion wasDerivedFrom uniprot-20150221 NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_provenance.
- NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_assertion wasGeneratedBy ECO_0000218 NP2120.RASrle8k0-mFm6WCHkKbe5rsx4J5_QcDohmxLyvAm4OIs130_provenance.