Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_assertion> ?p ?o ?g. }
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- NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_assertion type Assertion NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_head.
- NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_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." NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_assertion evidence source_evidence_curated NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_assertion SIO_000772 22842229 NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_assertion wasDerivedFrom ctd_human-2016 NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_assertion wasGeneratedBy ECO_0000218 NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.