Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_provenance.
- NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_assertion description "[Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephalopathy (EE), but the full phenotypic spectrum remains to be delineated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_provenance.
- NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_assertion evidence source_evidence_literature NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_provenance.
- NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_assertion SIO_000772 23409955 NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_provenance.
- NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_assertion wasDerivedFrom befree-2016 NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_provenance.
- NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_assertion wasGeneratedBy ECO_0000203 NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1053123.RAWQ9y5p3lTlTBmQVyjDwuhi0UGIpZ9_uT6ed4iM9BrIY130_provenance.