Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_provenance.
- NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_assertion description "[We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_provenance.
- NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_assertion evidence source_evidence_literature NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_provenance.
- NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_assertion SIO_000772 18179881 NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_provenance.
- NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_assertion wasDerivedFrom befree-2016 NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_provenance.
- NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_assertion wasGeneratedBy ECO_0000203 NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_provenance.
- befree-2016 importedOn "2016-02-19" NP648709.RAH7YLqMJwzfWHe_EQBXtCXWg9nYHx8VQnEWxEsGGPV4E130_provenance.