Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_assertion> ?p ?o ?g. }
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- NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_assertion type Assertion NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_head.
- NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_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." NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_provenance.
- NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_assertion evidence source_evidence_literature NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_provenance.
- NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_assertion SIO_000772 20227246 NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_provenance.
- NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_assertion wasDerivedFrom befree-20140225 NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_provenance.
- NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_assertion wasGeneratedBy ECO_0000203 NP215533.RAyXB-KNnMXoT1PrEZ18JSdNed_4wNEg4gSXXYjFjsk38130_provenance.