Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_provenance.
- NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_assertion description "[A de novo 9q33.3-q34.11 microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual attention, and developmental delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_provenance.
- NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_assertion evidence source_evidence_literature NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_provenance.
- NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_assertion SIO_000772 20493457 NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_provenance.
- NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_assertion wasDerivedFrom befree-20140225 NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_provenance.
- NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_assertion wasGeneratedBy ECO_0000203 NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_provenance.