Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_provenance.
- NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_assertion description "[Missense mutations in the BCS1L gene as a cause of the Bj�rnstad syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_provenance.
- NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_assertion evidence source_evidence_curated NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_provenance.
- NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_assertion SIO_000772 17314340 NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_provenance.
- NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_assertion wasDerivedFrom uniprot-2016 NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_provenance.
- NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_assertion wasGeneratedBy ECO_0000218 NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4878.RABIOFuZ43vnKrpMunO9bDGq6mEpsF1QEbRD_OZGUcC38130_provenance.