Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_provenance.
- NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_assertion description "[We report a new neurodegenerative phenotype associated with a known ARX mutation and causing early abnormal neurodevelopment, a complex movement disorder, and early infantile epileptic encephalopathy with a suppression-burst pattern (Ohtahara syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_provenance.
- NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_assertion evidence source_evidence_literature NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_provenance.
- NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_assertion SIO_000772 19747203 NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_provenance.
- NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_assertion wasDerivedFrom befree-2016 NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_provenance.
- NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_assertion wasGeneratedBy ECO_0000203 NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_provenance.
- befree-2016 importedOn "2016-02-19" NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_provenance.