Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_provenance.
- NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_assertion wasGeneratedBy ECO_0000218 NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_provenance.
- NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_assertion wasDerivedFrom uniprot-20130724 NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_provenance.
- NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_assertion SIO_000772 8068076 NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_provenance.
- NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_assertion evidence source_evidence_curated NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_provenance.
- NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_assertion description "[A new missense mutation in the phenylalanine hydroxylase (PAH) gene was identified in 20/30 members of the families of 10 unrelated Japanese phenylketonuria (PKU) patients from Kyushu island.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4728.RAWZKBVI4I_J06twH_ZTlmDpxQ1KFIzuvk6lSL4RpqFGw130_provenance.