Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_assertion> ?p ?o ?g. }
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- NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_assertion type Assertion NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_head.
- NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_assertion wasGeneratedBy ECO_0000203 NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_provenance.
- NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_assertion wasDerivedFrom befree-20140225 NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_provenance.
- NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_assertion SIO_000772 10711674 NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_provenance.
- NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_assertion evidence source_evidence_literature NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_provenance.
- NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_assertion description "[A two-generation consanguineous Pakistani family with autosomal recessive Leber congenital amaurosis (LCA, MIM 204,000) and keratoconus was identified.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP575484.RAaom2kjW1OTSvRvd0JjJdEVYOcSONvdRSQw2rO0oPAn0130_provenance.