Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_provenance.
- NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_assertion wasGeneratedBy ECO_0000203 NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_provenance.
- NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_assertion wasDerivedFrom befree-20150227 NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_provenance.
- NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_assertion SIO_000772 21890410 NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_provenance.
- NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_assertion evidence source_evidence_literature NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_provenance.
- NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_assertion description "[Aberrant hyperactivation of mTOR as a consequence of loss-of-function gene mutations encoding mTOR inhibitor proteins such as TSC1, TSC2, PTEN and STRADα has been recently linked to developmental cortical malformations associated with epilepsy and neurobehavioral disabilities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP759933.RAYgQUBRgXdBPUpP4lRvUfMuxV2i12O6Vcfv6VDTX3hKA130_provenance.