Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_provenance.
- NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_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." NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_provenance.
- NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_assertion evidence source_evidence_curated NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_provenance.
- NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_assertion SIO_000772 9425237 NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_provenance.
- NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_assertion wasDerivedFrom ctd_human-20150221 NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_provenance.
- NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_assertion wasGeneratedBy ECO_0000218 NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP26951.RAGyhLsAVnY2spPRyv3nzD5a5-F9Jn2DnECj9P6ukJC1s130_provenance.