Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion> ?p ?o ?g. }
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- NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion type Assertion NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_head.
- NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion description "[Mutations in PAX6 gene 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." NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion evidence source_evidence_literature NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion SIO_000772 15740668 NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion wasDerivedFrom befree-20140225 NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.
- NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_assertion wasGeneratedBy ECO_0000203 NP485766.RA5aXArO1AvhmPai0HROb5YSst8Up-MwBRQhSk07Z8bQc130_provenance.