Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_provenance.
- NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_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." NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_provenance.
- NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_assertion evidence source_evidence_literature NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_provenance.
- NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_assertion SIO_000772 20227246 NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_provenance.
- NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_assertion wasDerivedFrom befree-20150227 NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_provenance.
- NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_assertion wasGeneratedBy ECO_0000203 NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP606069.RAQwqCYvQphgQ57FKlLarNNTw6EmCv9x4aJBiBzRyRorU130_provenance.