Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_assertion> ?p ?o ?g. }
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- NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_assertion type Assertion NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_head.
- NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_assertion description "[We conclude that EFMR is a distinctive, under-recognized familial syndrome where girls present with convulsions in infancy, often associated with intellectual impairment and autistic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_provenance.
- NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_assertion evidence source_evidence_literature NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_provenance.
- NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_assertion SIO_000772 18234694 NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_provenance.
- NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_assertion wasDerivedFrom befree-20140225 NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_provenance.
- NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_assertion wasGeneratedBy ECO_0000203 NP220459.RAw-xShAFnMLPHEVmv7OnVxTa7rDfu0GIzfsx11wt-UGk130_provenance.