Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_provenance.
- NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_assertion description "[CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of ?-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_provenance.
- NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_assertion evidence source_evidence_curated NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_provenance.
- NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_assertion SIO_000772 22772592 NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_provenance.
- NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_assertion wasDerivedFrom uniprot-2016 NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_provenance.
- NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_assertion wasGeneratedBy ECO_0000218 NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP7152.RAkn8e9zIsQzU6O0p0m5EjYimFtRogIBpk82TJvy4A-dQ130_provenance.