Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_assertion type Assertion NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_head.
- NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_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." NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_provenance.
- NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_assertion evidence source_evidence_literature NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_provenance.
- NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_assertion SIO_000772 16015284 NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_provenance.
- NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_assertion wasDerivedFrom lhgdn-20090331 NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_provenance.
- NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_assertion wasGeneratedBy ECO_0000203 NP211952.RAR5lAFiLS8oCXTQSeMiaWtdYBD7QCzeccK5PSxrBKau0130_provenance.