Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_provenance.
- NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_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." NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_provenance.
- NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_assertion evidence source_evidence_curated NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_provenance.
- NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_assertion SIO_000772 7704558 NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_provenance.
- NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_assertion wasDerivedFrom uniprot-20150221 NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_provenance.
- NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_assertion wasGeneratedBy ECO_0000218 NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP1160.RA_cLSzgljr01G8uRptDaZQD4Yl1pvzivi_zJRc2iQz-0130_provenance.