Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP246524.RA7a2SQW05oErb3_uc8GLKWX1K67gBsN0lH09HPd1Tw6c#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 17030535 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[An arginine insertion at codon 352 (insR352) in the presenilin-1 (PSEN1) gene was identified in the proband, but analyses in plasma and CSF suggested a mechanism of neurodegeneration not directly related to amyloid pathophysiology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.