Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_assertion> ?p ?o ?g. }
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- NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_assertion type Assertion NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_head.
- NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_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." NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_provenance.
- NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_assertion evidence source_evidence_literature NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_provenance.
- NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_assertion SIO_000772 16015284 NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_provenance.
- NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_assertion wasDerivedFrom befree-20140225 NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_provenance.
- NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_assertion wasGeneratedBy ECO_0000203 NP526899.RAoI-dSsfvN43DXoHD6HeYcuD5A_HGwkW7BqK0HofNXgY130_provenance.