Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_assertion type Assertion NP21225.RA_cw6n88eHeR_40vDmtNd5FW9X9xS0hUq3bykfsIfMsk130_head.
- 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.