Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_provenance.
- NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_assertion wasGeneratedBy ECO_0000218 NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_provenance.
- NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_assertion wasDerivedFrom ctd_human-20130708 NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_provenance.
- NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_assertion SIO_000772 19339306 NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_provenance.
- NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_assertion evidence source_evidence_curated NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_provenance.
- NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_assertion description "[Inactivating mutations in the retinoid isomerase (RPE65) or lecithin:retinol acyltransferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impairment in humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP21823.RAoI_qU_fD886a0c9I3m_ExUeANziFrLXbRePdVmWapIo130_provenance.