Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_assertion> ?p ?o ?g. }
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- NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_assertion type Assertion NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_head.
- NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_assertion description "[Although the phenotype of CDKL5 mutation is similar to Rett syndrome caused by MECP2 mutation, the former is characterized by early-onset seizures and association with West syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_provenance.
- NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_assertion evidence source_evidence_literature NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_provenance.
- NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_assertion SIO_000772 16806828 NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_provenance.
- NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_assertion wasDerivedFrom befree-2016 NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_provenance.
- NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_assertion wasGeneratedBy ECO_0000203 NP557115.RA6r3eW66pd9Jyx322yNLOT-smOVcDxFW-QcC9DFF_JNI130_provenance.