Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_provenance.
- NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_assertion description "[Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_provenance.
- NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_assertion evidence source_evidence_curated NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_provenance.
- NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_assertion SIO_000772 7704558 NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_provenance.
- NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_assertion wasDerivedFrom uniprot-20130724 NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_provenance.
- NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_assertion wasGeneratedBy ECO_0000218 NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5456.RAY48QfpkH9Wkq5OVGozgLDd8dBOEARl0sM5bMonfqZV0130_provenance.