Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_assertion> ?p ?o ?g. }
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- NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_assertion type Assertion NP37677.RA-I8JiR_TeAcHuZumiRx7K2-w4PlAlu8PErJ5STrvSIs130_head.
- 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.