Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_provenance.
- NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_assertion description "[Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_provenance.
- NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_assertion evidence source_evidence_literature NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_provenance.
- NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_assertion SIO_000772 22842229 NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_provenance.
- NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_assertion wasDerivedFrom befree-20140225 NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_provenance.
- NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_assertion wasGeneratedBy ECO_0000203 NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_provenance.
- befree-20140225 importedOn "2014-02-25" NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_provenance.