Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_assertion> ?p ?o ?g. }
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- NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_assertion type Assertion NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_head.
- NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_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." NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_provenance.
- NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_assertion evidence source_evidence_literature NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_provenance.
- NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_assertion SIO_000772 9425237 NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_provenance.
- NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_assertion wasDerivedFrom befree-20150227 NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_provenance.
- NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_assertion wasGeneratedBy ECO_0000203 NP639389.RANdLYvDnpc1grPvxx3Ym8bp7kqG85mABv7C8sqGztSDk130_provenance.