Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_provenance.
- NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_assertion description "[Using microarray-based comparative genomic hybridization, 3 patients with epilepsy were revealed to have genomic copy number aberrations at 17p13.3: a partial LIS1 deletion in a patient with isolated lissencephaly and epilepsy, a triplication of LIS1 in a patient with symptomatic West syndrome, and a terminal deletion of 17p including YWHAE and CRK but not LIS1 in a patient with intractable epilepsy associated with distinctive facial features and growth retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_provenance.
- NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_assertion evidence source_evidence_literature NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_provenance.
- NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_assertion SIO_000772 20227246 NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_provenance.
- NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_assertion wasDerivedFrom befree-20140225 NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_provenance.
- NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_assertion wasGeneratedBy ECO_0000203 NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_provenance.
- befree-20140225 importedOn "2014-02-25" NP718372.RAdo0Fa31qRlZXDwRQoxE9toJ4R04LueOR0pSu8CrWZic130_provenance.