Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_assertion> ?p ?o ?g. }
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- NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_assertion type Assertion NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_head.
- NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_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." NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_provenance.
- NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_assertion evidence source_evidence_literature NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_provenance.
- NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_assertion SIO_000772 15740668 NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_provenance.
- NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_assertion wasDerivedFrom befree-20140225 NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_provenance.
- NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_assertion wasGeneratedBy ECO_0000203 NP430036.RA2F4eocbe69-dHGvqpD_Nts2PdiqKLI9ANWFAV2neEE4130_provenance.