Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_provenance.
- NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_assertion description "[It is likely that the heterozygous severe OTX2 loss-of-function mutation caused GH deficiency and short stature, primarily because of decreased transactivation function for HESX1 and POU1F1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_provenance.
- NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_assertion evidence source_evidence_literature NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_provenance.
- NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_assertion SIO_000772 18628516 NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_provenance.
- NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_assertion wasDerivedFrom befree-20140225 NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_provenance.
- NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_assertion wasGeneratedBy ECO_0000203 NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP418489.RAnJ272zUizSOw40vE4I1ZMZJywooSxRzK3AHC-IcapvU130_provenance.