Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_provenance.
- NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_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." NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_provenance.
- NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_assertion evidence source_evidence_literature NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_provenance.
- NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_assertion SIO_000772 21931011 NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_provenance.
- NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_assertion wasDerivedFrom befree-2016 NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_provenance.
- NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_assertion wasGeneratedBy ECO_0000203 NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_provenance.
- befree-2016 importedOn "2016-02-19" NP924843.RAUIlzPgxVcisAOiB-JlKWdb7dKLySSbgrW3HxOqVroLA130_provenance.