Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP330561.RAvKz5WmlXy1A_ajCHR0GgSlb-rgPwekJR7yX9F86OAdo#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000218 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion SIO_000772 14962902 provenance.
- assertion evidence source_evidence_curated provenance.
- assertion description "[By phenotypic analysis of affected relatives and carriers of the same ELA2 mutations, we showed that the expression of neutropenia in CN and SCN may be either homogeneous or variable according to the type of mutations, suggesting different pathogenetic mechanisms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.