Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_assertion> ?p ?o ?g. }
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- NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_assertion type Assertion NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_head.
- NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_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." NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_provenance.
- NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_assertion evidence source_evidence_literature NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_provenance.
- NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_assertion SIO_000772 23206890 NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_provenance.
- NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_assertion wasDerivedFrom befree-20140225 NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_provenance.
- NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_assertion wasGeneratedBy ECO_0000203 NP540269.RAivU2sREiYym3B5_pCE4FvIrwEYwCJvLI-BUuCuOeMQc130_provenance.