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- source_evidence_literature type ECO_0000212 NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_provenance.
- NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_assertion description "[Mutations of FOXL2, a gene encoding a forkhead transcription factor, have been shown to cause the blepharophimosis-ptosis-epicanthus inversus syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_provenance.
- NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_assertion evidence source_evidence_literature NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_provenance.
- NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_assertion SIO_000772 16219626 NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_provenance.
- NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_assertion wasDerivedFrom befree-2016 NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_provenance.
- NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_assertion wasGeneratedBy ECO_0000203 NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_provenance.
- befree-2016 importedOn "2016-02-19" NP517588.RANE6MaUNZSKmo95qxyVPRLnauaKT-7Fy7Fkt9opyp4OE130_provenance.