Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance.
- NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_assertion wasGeneratedBy ECO_0000203 NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance.
- NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_assertion wasDerivedFrom lhgdn-20090331 NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance.
- NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_assertion SIO_000772 16015284 NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance.
- NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_assertion evidence source_evidence_literature NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance.
- NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_assertion description "[novel pathogenic CDKL5 mutations were identified in three girls, two of whom had initially been diagnosed with the early onset seizure variant of Rett Syndrome (RTT) and the other with early onset seizures and some features of RTT ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP211951.RAeUw0bw91cy9VkiXZoMN86ba4RKqGV2qhd4U0fiUTP6Y130_provenance.