Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_provenance.
- NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_assertion description "[Due to their highly differentiated, malformative nature and glioneuronal phenotype, FCD(IIb) share neuropathological characteristics with lesions observed in familial disorders such as cortical tubers present in patients with autosomal dominant tuberous sclerosis complex (TSC), related to mutations in the TSC1 or TSC2 genes, and dysplastic gangliocytomas of the cerebellum found in Cowden disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_provenance.
- NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_assertion evidence source_evidence_literature NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_provenance.
- NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_assertion SIO_000772 17013611 NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_provenance.
- NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_assertion wasDerivedFrom befree-20140225 NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_provenance.
- NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_assertion wasGeneratedBy ECO_0000203 NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP529875.RABv2tDCL4SC2_avGrfg9G167Oz4B76SleuUT1La6SnmY130_provenance.