Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_assertion> ?p ?o ?g. }
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- NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_assertion type Assertion NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_head.
- NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_assertion description "[Particularly, we found rare microdeletions within or near two genes, RBFOX1 and NRXN1, previously shown to harbor deletions associated with idiopathic generalized epilepsy, and a microduplication in the proximal region of chromosome 1q21.1, where duplications have been associated with various neurodevelopmental disorders and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_provenance.
- NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_assertion evidence source_evidence_literature NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_provenance.
- NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_assertion SIO_000772 25243798 NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_provenance.
- NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_assertion wasDerivedFrom befree-20150227 NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_provenance.
- NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_assertion wasGeneratedBy ECO_0000203 NP913258.RARVMGRtV5j9rduWFl5PeSJioVlNC7XwHATbqmxJgLWfI130_provenance.