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- source_evidence_literature type ECO_0000212 NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_provenance.
- NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_assertion wasGeneratedBy ECO_0000203 NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_provenance.
- NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_assertion wasDerivedFrom befree-20150227 NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_provenance.
- NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_assertion SIO_000772 10234503 NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_provenance.
- NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_assertion evidence source_evidence_literature NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_provenance.
- NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_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." NP610358.RAuIohICZ8CY5ocAD-RJLSeyaIGfR8TkC6FYg-DsjdbkE130_provenance.