Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_assertion> ?p ?o ?g. }
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- NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_assertion type Assertion NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_head.
- NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_assertion description "[Perforin gene (PRF1) mutations have been reported in 20-30% of patients with familial hemophagocytic lymphohistiocytosis (FHL), an immune disorder of infancy and early childhood.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_provenance.
- NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_assertion evidence source_evidence_literature NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_provenance.
- NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_assertion SIO_000772 17652853 NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_provenance.
- NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_assertion wasDerivedFrom befree-2016 NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_provenance.
- NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_assertion wasGeneratedBy ECO_0000203 NP621670.RArxHhrdJ7oLnGxjrY1Z2HOP1BSfwFEdLBfzSIpDn8rME130_provenance.