Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_provenance.
- NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_assertion description "[All DAX-1 missense mutant constructs showed marked loss of repressor function, with the exception of I439S, a mutation previously shown to be associated with delayed-onset adrenal failure and incomplete hypogonadotropic hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_provenance.
- NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_assertion evidence source_evidence_literature NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_provenance.
- NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_assertion SIO_000772 11443184 NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_provenance.
- NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_assertion wasDerivedFrom befree-2016 NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_provenance.
- NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_assertion wasGeneratedBy ECO_0000203 NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_provenance.
- befree-2016 importedOn "2016-02-19" NP323119.RAUaVL7zfIAZ3v2rwAbNWT8oSc9DehMzo48VAFsQtKO4E130_provenance.