Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_assertion> ?p ?o ?g. }
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- NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_assertion type Assertion NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_head.
- NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_assertion description "[Of eight patients without detectable auto-antibodies, three had ELANE mutations [Ser126Pro, Arg170Phe and Cys223stop] and recurrent muco-cutaneous infections and sepsis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_provenance.
- NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_assertion evidence source_evidence_literature NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_provenance.
- NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_assertion SIO_000772 23206890 NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_provenance.
- NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_assertion wasDerivedFrom befree-20140225 NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_provenance.
- NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_assertion wasGeneratedBy ECO_0000203 NP376554.RA8O9w9KXbpSsnYgqsyVLAvzdOSwh7ayBdES_zohQ1vmY130_provenance.