Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_assertion> ?p ?o ?g. }
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- NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_assertion type Assertion NP128809.RAVgeAx8R1NFBlLTu9XMMpsjvIUS5Slo6IsnHipJ0dLms130_head.
- 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.