Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance.
- befree-2016 importedOn "2016-02-19" NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance.
- NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_assertion wasGeneratedBy ECO_0000203 NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance.
- NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_assertion wasDerivedFrom befree-2016 NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance.
- NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_assertion SIO_000772 20685856 NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance.
- NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_assertion evidence source_evidence_literature NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance.
- NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_assertion description "[We describe three novel heterozygous frameshift or nonsense GLI2 mutations, predicting truncated proteins lacking the activator domain, associated with IGHD or combined pituitary hormone deficiency and ectopic posterior pituitary lobe without HPE.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance.