Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_assertion type Assertion NP540203.RAYbfO3FpSiJO4WsWnCFUxvP0NYI6TscNiw33orNjHlQ8130_head.
- 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.