Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_provenance.
- NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_assertion description "[Although haploinsufficiency of STXBP1 was involved in early infantile epileptic encephalopathy in a previous different cohort study (group B), no mutations of STXBP1 were found in two of the remaining three subjects of group A (one was unavailable).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_provenance.
- NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_assertion evidence source_evidence_literature NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_provenance.
- NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_assertion SIO_000772 20493457 NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_provenance.
- NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_assertion wasDerivedFrom befree-20140225 NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_provenance.
- NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_assertion wasGeneratedBy ECO_0000203 NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP376254.RArJN9iXsQdpqHGUsXFaFtb7TvJrhwm0Vhq7R9PEpbzWU130_provenance.