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- source_evidence_literature type ECO_0000212 NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_provenance.
- NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_assertion description "[Eighteen affected individuals from 13 families ascertained from a total cohort of 214 families with ABCA4-related retinal disease presenting to a single center.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_provenance.
- NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_assertion evidence source_evidence_literature NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_provenance.
- NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_assertion SIO_000772 23769331 NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_provenance.
- NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_assertion wasDerivedFrom befree-2016 NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_provenance.
- NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_assertion wasGeneratedBy ECO_0000203 NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1086117.RAU9Y_OwmA9nEyB07JPrQO1CODeRtDsS7hrzxA4kvmPY4130_provenance.