Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_assertion> ?p ?o ?g. }
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- NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_assertion type Assertion NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_head.
- NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_assertion description "[Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_provenance.
- NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_assertion evidence source_evidence_literature NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_provenance.
- NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_assertion SIO_000772 16326141 NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_provenance.
- NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_assertion wasDerivedFrom befree-2016 NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_provenance.
- NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_assertion wasGeneratedBy ECO_0000203 NP525285.RAgavIQz3i6hdsVEnCQ-onh3XuFM1PKOxXUED4540ySok130_provenance.