Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_assertion> ?p ?o ?g. }
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- NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_assertion type Assertion NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_head.
- NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_assertion description "[Mutations in the CDKL5 gene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_provenance.
- NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_assertion evidence source_evidence_literature NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_provenance.
- NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_assertion SIO_000772 16015284 NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_provenance.
- NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_assertion wasDerivedFrom befree-20140225 NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_provenance.
- NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_assertion wasGeneratedBy ECO_0000203 NP328471.RAqFws40PJ-bGwd_giBT19Y1YOM4E93KGxLgTTOLaUkZk130_provenance.