Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance.
- NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_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 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." NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance.
- NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_assertion evidence source_evidence_literature NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance.
- NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_assertion SIO_000772 16015284 NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance.
- NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_assertion wasDerivedFrom befree-2016 NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance.
- NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_assertion wasGeneratedBy ECO_0000203 NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance.
- befree-2016 importedOn "2016-02-19" NP503961.RAKNTi-mPZBQ6PCbBEJ86XfBMQx6cXzCMB3YWCTKdNmC0130_provenance.