Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_assertion> ?p ?o ?g. }
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- NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_assertion type Assertion NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_head.
- NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_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." NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_provenance.
- NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_assertion evidence source_evidence_literature NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_provenance.
- NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_assertion SIO_000772 17652853 NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_provenance.
- NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_assertion wasDerivedFrom befree-20150227 NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_provenance.
- NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_assertion wasGeneratedBy ECO_0000203 NP639874.RApgslxLWavECDpCKvVpGfEPchE-qAjhPZ9_3CWCaWp3k130_provenance.