Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_assertion> ?p ?o ?g. }
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- NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_assertion type Assertion NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_head.
- NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_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." NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_provenance.
- NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_assertion evidence source_evidence_literature NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_provenance.
- NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_assertion SIO_000772 21931011 NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_provenance.
- NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_assertion wasDerivedFrom befree-20150227 NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_provenance.
- NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_assertion wasGeneratedBy ECO_0000203 NP951943.RAMdBUGgQqysfh-kia0BfDPTkYMP1ia1FlJXy1S8W-dzM130_provenance.