Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_provenance.
- NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_assertion description "[Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_provenance.
- NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_assertion evidence source_evidence_curated NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_provenance.
- NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_assertion SIO_000772 9425237 NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_provenance.
- NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_assertion wasDerivedFrom ctd_human-20130708 NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_provenance.
- NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_assertion wasGeneratedBy ECO_0000218 NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_provenance.