Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance.
- NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_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." NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance.
- NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_assertion evidence source_evidence_literature NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance.
- NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_assertion SIO_000772 16015284 NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance.
- NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_assertion wasDerivedFrom lhgdn-20090331 NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance.
- NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_assertion wasGeneratedBy ECO_0000203 NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_provenance.