Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_provenance.
- NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_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." NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_provenance.
- NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_assertion evidence source_evidence_curated NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_provenance.
- NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_assertion SIO_000772 19732866 NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_provenance.
- NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_assertion wasDerivedFrom ctd_human-20150221 NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_provenance.
- NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_assertion wasGeneratedBy ECO_0000218 NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP15002.RA2Y5I7ZaLGusxkQiZUTm96xqNrR7ajVWgctPnyhRG1BE130_provenance.