Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_assertion> ?p ?o ?g. }
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- NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_assertion type Assertion NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_head.
- NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_assertion wasGeneratedBy ECO_0000203 NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_provenance.
- NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_assertion wasDerivedFrom befree-2016 NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_provenance.
- NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_assertion SIO_000772 10234503 NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_provenance.
- NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_assertion evidence source_evidence_literature NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_provenance.
- NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_assertion description "[Mutations in the developmental control gene PAX6 have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP252084.RA1hxcxPrhvJe3x2VvLNMqajJRLTezlsynQlGVOagCDrA130_provenance.