Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_provenance.
- NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_assertion description "[Three patients carrying FOLR1 mutations developed progressive movement disturbance, psychomotor decline, and epilepsy and showed severely reduced folate concentrations in the cerebrospinal fluid (CSF).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_provenance.
- NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_assertion evidence source_evidence_curated NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_provenance.
- NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_assertion SIO_000772 19732866 NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_provenance.
- NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_assertion wasDerivedFrom ctd_human-20130708 NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_provenance.
- NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_assertion wasGeneratedBy ECO_0000218 NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP16029.RAhAuSWvN1ejbtXHzPod95UV7bhpk5gHFFHBCGtxRjljM130_provenance.