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- source_evidence_literature type ECO_0000212 NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_provenance.
- NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_assertion description "[For example, mutations in the ABCR gene, (recently identified in cones as well) which codes for retinal rod-specific ABCR protein is responsible for Stargardt macular dystrophy/fundus flavimaculatus, an autosomal recessive macular dystrophy with juvenile onset, which accounts for 7% of human retinal degenerative diseases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_provenance.
- NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_assertion evidence source_evidence_literature NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_provenance.
- NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_assertion SIO_000772 11556484 NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_provenance.
- NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_assertion wasDerivedFrom befree-2016 NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_provenance.
- NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_assertion wasGeneratedBy ECO_0000203 NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_provenance.
- befree-2016 importedOn "2016-02-19" NP330111.RAdDs5pFgf1LO9FTcgPNuDRKMNcbkFsD4uUPwe9kZLI8c130_provenance.