Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_assertion> ?p ?o ?g. }
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- NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_assertion type Assertion NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_head.
- NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_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." NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_provenance.
- NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_assertion evidence source_evidence_literature NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_provenance.
- NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_assertion SIO_000772 16374518 NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_provenance.
- NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_assertion wasDerivedFrom befree-20150227 NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_provenance.
- NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_assertion wasGeneratedBy ECO_0000203 NP640180.RA_aPsUkNpOU8e0sEPIH_z16QiibHPLiawAvjta1mcJZY130_provenance.