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- source_evidence_literature type ECO_0000212 NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_provenance.
- NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_assertion description "[Her son's axial length was shortened with refractive errors of +16.75 dioptres in the right and +14.0 dioptres in the left eye; ERG evidenced a rod-cone dystrophy, OCT showed central macular thickening with cystoid changes and ultrasonography revealed optic disc drusen.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_provenance.
- NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_assertion evidence source_evidence_literature NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_provenance.
- NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_assertion SIO_000772 23143909 NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_provenance.
- NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_assertion wasDerivedFrom befree-2016 NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_provenance.
- NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_assertion wasGeneratedBy ECO_0000203 NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_provenance.
- befree-2016 importedOn "2016-02-19" NP1027647.RAK8osks0ePbGwitwq699C40cOu8zX8FWwYq-D8FZfAlo130_provenance.