Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_provenance.
- NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_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." NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_provenance.
- NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_assertion evidence source_evidence_literature NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_provenance.
- NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_assertion SIO_000772 16015284 NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_provenance.
- NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_assertion wasDerivedFrom befree-20150227 NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_provenance.
- NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_assertion wasGeneratedBy ECO_0000203 NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_provenance.
- befree-20150227 importedOn "2015-02-27" NP719325.RA8E9e5nXSO1l8u_6Ewc1BzVK43eEYxDkll6pR8haiyg8130_provenance.