Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1363570.RA4bjg0pEwKCL77QKF8Qcico5jQxslLzcV8AGvzckl3h0#assertion> ?p ?o ?g. }
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- assertion description "[Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 22842229 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.