Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_assertion> ?p ?o ?g. }
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- NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_assertion type Assertion NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_head.
- NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_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." NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_provenance.
- NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_assertion evidence source_evidence_literature NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_provenance.
- NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_assertion SIO_000772 16015284 NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_provenance.
- NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_assertion wasDerivedFrom lhgdn-20090331 NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_provenance.
- NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_assertion wasGeneratedBy ECO_0000203 NP136871.RAyy_nBT2ftovA8_AR1zcnZF1_7I70Axbi2I7dXe9qPsM130_provenance.