Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion description "[Both overdosage of SOX3, as a result of gene duplication, and loss of function resulting from expansion of the first polyalanine (PA) tract are associated with variable degrees of hypopituitarism, with or without mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion evidence source_evidence_literature NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion SIO_000772 21289259 NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion wasDerivedFrom befree-20140225 NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_assertion wasGeneratedBy ECO_0000203 NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.
- befree-20140225 importedOn "2014-02-25" NP301196.RA8fEEJzjNp5e5aCmhNU-a0Jloa_QGw20szasadAs850k130_provenance.