Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_assertion> ?p ?o ?g. }
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- NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_assertion type Assertion NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_head.
- NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_assertion wasGeneratedBy ECO_0000203 NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_provenance.
- NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_assertion wasDerivedFrom befree-2016 NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_provenance.
- NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_assertion SIO_000772 23206890 NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_provenance.
- NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_assertion evidence source_evidence_literature NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_provenance.
- NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_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." NP1033013.RAoGiYuebgqHiw6Hu0PEdk4hV6n9pKmQd-tA8oWR70N-g130_provenance.