Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion wasGeneratedBy ECO_0000203 NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion wasDerivedFrom befree-2016 NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion SIO_000772 9633819 NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion evidence source_evidence_literature NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.
- NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_assertion description "[Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1397734.RAOp4DmkiX37J4tdwGNj58Ux0HiuePm8MRMHVTqB5b2nQ130_provenance.