Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_provenance.
- NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_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." NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_provenance.
- NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_assertion evidence source_evidence_curated NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_provenance.
- NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_assertion SIO_000772 9425237 NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_provenance.
- NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_assertion wasDerivedFrom ctd_human-2016 NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_provenance.
- NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_assertion wasGeneratedBy ECO_0000218 NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_provenance.