Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_provenance.
- NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_assertion wasGeneratedBy ECO_0000203 NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_provenance.
- NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_assertion wasDerivedFrom befree-20140225 NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_provenance.
- NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_assertion SIO_000772 22387303 NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_provenance.
- NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_assertion evidence source_evidence_literature NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_provenance.
- NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_assertion description "[Infantile neuronal ceroid lipofuscinosis (INCL; NCL1, Haltia-Santavuori disease) is caused by mutations in the CLN1/PPT gene which are associated with an early onset INCL phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_provenance.
- befree-20140225 importedOn "2014-02-25" NP861443.RAkOAe2IEzE83wbbvaeQuTuN2cEZtI_0K1uI1UaTJ381c130_provenance.