Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1379138.RAMFKuou9V5uP3FNhiicn3SoAyBGxaoIHXXjgTfsClzyE#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a combined primary immunodeficiency syndrome that is characterized by elevated serum IgE levels, depressed IgM levels, eosinophilia, sinopulmonary infections, cutaneous viral infections, and lymphopenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 21931011 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.