Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_provenance.
- NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_assertion description "[Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_provenance.
- NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_assertion evidence source_evidence_curated NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_provenance.
- NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_assertion SIO_000772 10502831 NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_provenance.
- NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_assertion wasDerivedFrom uniprot-2016 NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_provenance.
- NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_assertion wasGeneratedBy ECO_0000218 NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP402.RASI4dSjDKMKRrzk6ImttfzTXMvsgyEWg94BMm7_Zw3Fs130_provenance.