Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_provenance.
- befree-2016 importedOn "2016-02-19" NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_provenance.
- NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_assertion wasGeneratedBy ECO_0000203 NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_provenance.
- NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_assertion wasDerivedFrom befree-2016 NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_provenance.
- NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_assertion SIO_000772 19339306 NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_provenance.
- NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_assertion evidence source_evidence_literature NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_provenance.
- NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_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." NP729975.RA_wCxaC48UHZS71l6hIk8h0S-IzQw1OlBsaa-7ZgJ-KE130_provenance.