Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_provenance.
- NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_assertion wasGeneratedBy ECO_0000218 NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_provenance.
- NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_assertion wasDerivedFrom ctd_human-20150221 NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_provenance.
- NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_assertion SIO_000772 19339306 NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_provenance.
- NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_assertion evidence source_evidence_curated NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_provenance.
- NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_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." NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_provenance.