Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_provenance.
- NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_assertion wasGeneratedBy ECO_0000218 NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_provenance.
- NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_assertion wasDerivedFrom uniprot-20130724 NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_provenance.
- NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_assertion SIO_000772 2246854 NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_provenance.
- NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_assertion evidence source_evidence_curated NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_provenance.
- NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_assertion description "[Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3103.RAeISixDPMt2s70YmBDTs2tqQu2uNzAC4Pt4fDAB3ITT0130_provenance.