Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP250915.RAlKpQznoPcJFcaBZM2VMgvwMdcZFx87TzPR9Bj38Z9vM#assertion> ?p ?o ?g. }
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- assertion description "[The mutation in the structural gene encoding cystatin C appears to be the primary defect in this inherited disorder causing amyloid fibril formation and accumulation followed by cerebral hemorrhage.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 2541223 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.