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- source_evidence_literature type ECO_0000212 NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_provenance.
- NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_assertion description "[Gtf2ird1-null mice exhibit phenotypic abnormalities reminiscent of the human microdeletion disorder Williams-Beuren syndrome (WBS); craniofacial imaging reveals abnormalities in both skull and jaws that may arise through misregulation of goosecoid, a downstream target of Gtf2ird1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_provenance.
- NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_assertion evidence source_evidence_literature NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_provenance.
- NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_assertion SIO_000772 16293761 NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_provenance.
- NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_assertion wasDerivedFrom befree-2016 NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_provenance.
- NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_assertion wasGeneratedBy ECO_0000203 NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_provenance.
- befree-2016 importedOn "2016-02-19" NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_provenance.