Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_assertion> ?p ?o ?g. }
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- NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_assertion type Assertion NP523082.RARk5IM6DrrsyHtzyzuJE-3-8emEbduME93xDsLqZkSHY130_head.
- 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.