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- source_evidence_literature type ECO_0000212 NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_provenance.
- NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_assertion description "[PHOX2A mutation analysis revealed a novel nonsense mutation in CFEOM2 (congenital fibrosis of extraocular muscles type 2) ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_provenance.
- NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_assertion evidence source_evidence_literature NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_provenance.
- NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_assertion SIO_000772 14597037 NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_provenance.
- NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_assertion wasDerivedFrom lhgdn-20090331 NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_provenance.
- NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_assertion wasGeneratedBy ECO_0000203 NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP200823.RAreC9J7HY_G4GJU4oagav9GjwX3Yxl51or74uoHfUaUc130_provenance.