Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_assertion type Assertion NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_head.
- NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_assertion wasGeneratedBy ECO_0000203 NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_provenance.
- NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_assertion wasDerivedFrom befree-20150227 NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_provenance.
- NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_assertion SIO_000772 19339306 NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_provenance.
- NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_assertion evidence source_evidence_literature NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_provenance.
- NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_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." NP818232.RAvPvlzu5Auwk27phXDEaMXDK9zZsNtYg3rVubxyDS2Eo130_provenance.