Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_provenance.
- NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_assertion description "[Mutations in OFD1 also cause X-linked Joubert syndrome (JBTS10) and Simpson-Golabi-Behmel syndrome type 2 (SGBS2).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_provenance.
- NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_assertion evidence source_evidence_curated NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_provenance.
- NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_assertion SIO_000772 23033313 NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_provenance.
- NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_assertion wasDerivedFrom uniprot-20130724 NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_provenance.
- NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_assertion wasGeneratedBy ECO_0000218 NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4664.RAnOgyZsY13VcdAfk0sjLXVSRwADT3EijgpyXLrGqCWtg130_provenance.