Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion> ?p ?o ?g. }
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- NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion type Assertion NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_head.
- NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion description "[Mutations in WDR19 encoding the intraflagellar transport component IFT144 have recently been described in single families with the clinically overlapping skeletal ciliopathies Jeune and Sensenbrenner syndromes, combined or isolated nephronophthisis (NPHP) and retinitis pigmentosa (RP) (Senior-Loken syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_provenance.
- NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion evidence source_evidence_literature NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_provenance.
- NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion SIO_000772 24504730 NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_provenance.
- NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion wasDerivedFrom befree-20150227 NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_provenance.
- NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_assertion wasGeneratedBy ECO_0000203 NP933092.RAGZ9OeKBZIEPEu6wBeLKWAWckJJHj5lqGmGauvsbp-Rc130_provenance.