Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP849216.RAM1n0TXU3dh5JGX0C1y5xqkE3bbOvUWsPPDt9MbkvXjs#assertion> ?p ?o ?g. }
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- assertion description "[Missense mutations in perforin, a critical effector of lymphocyte cytotoxicity, lead to a spectrum of diseases, from familial hemophagocytic lymphohistiocytosis to an increased risk of tumorigenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 16374518 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.