Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1379073.RAHK2ycYGc1DI4qz91bPM0ErjPeTCEpE7D3GgWAjad9pI#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 22236427 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[The discovery that loss-of-function mutations in the gene DOCK8 are responsible for most forms of autosomal recessive hyper-IgE syndrome and some forms of combined immunodeficiency without elevated serum IgE has led to studies into the immunopathogenesis of this disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.