Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_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." NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_assertion evidence source_evidence_literature NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_assertion SIO_000772 20493457 NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_assertion wasDerivedFrom befree-20150227 NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_assertion wasGeneratedBy ECO_0000203 NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.
- befree-20150227 importedOn "2015-02-27" NP720038.RAVB-fpK4PXVEe78IAlCTR4s49aQlQt_3nefv9GFUjHac130_provenance.