Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_assertion> ?p ?o ?g. }
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- NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_assertion type Assertion NP762643.RASYuCul5H51rhgED8X4d8Pr7kwcolETWZIE5TEOTkpp0130_head.
- 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.