Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_provenance.
- NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_assertion wasGeneratedBy ECO_0000218 NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_provenance.
- NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_assertion wasDerivedFrom ctd_human-20130708 NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_provenance.
- NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_assertion SIO_000772 11326334 NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_provenance.
- NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_assertion evidence source_evidence_curated NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_provenance.
- NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_assertion description "[We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP30118.RAjyZm1Qm4TL0PwlZHl-Doy-iviKL5n1OQG1dxkztEgXU130_provenance.