Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_assertion> ?p ?o ?g. }
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- NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_assertion type Assertion NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_head.
- NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_assertion wasGeneratedBy ECO_0000203 NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_provenance.
- NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_assertion wasDerivedFrom lhgdn-20090331 NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_provenance.
- NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_assertion SIO_000772 18580586 NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_provenance.
- NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_assertion evidence source_evidence_literature NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_provenance.
- NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_assertion description "[first description of neuropathologic findings in early onset familial Alzheimer disease (EOFAD) due to N135S PSEN1 mutation; clinical phenotype was remarkable for spastic dysarthria, limb spasticity & seizures, in addition to more typical features of EOFAD ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP239316.RAYKhjTV9u6MJ5iMnPgfPOAiMbCspzZ7UmW9jYJJN2SHY130_provenance.