Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_assertion> ?p ?o ?g. }
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- NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_assertion type Assertion NP27037.RA4kz3jbTPoTyb-BD-rfWKCSPKFNhKmnfofBYTFLtMfRs130_head.
- 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.