Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_assertion> ?p ?o ?g. }
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- NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_assertion type Assertion NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_head.
- NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_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." NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_provenance.
- NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_assertion evidence source_evidence_literature NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_provenance.
- NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_assertion SIO_000772 21931011 NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_provenance.
- NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_assertion wasDerivedFrom befree-20140225 NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_provenance.
- NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_assertion wasGeneratedBy ECO_0000203 NP796229.RAsb1PNihIYI15jEZKNviV7_PCRluXBkT3AiRhyvuq7lw130_provenance.