Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_assertion> ?p ?o ?g. }
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- NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_assertion type Assertion NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_head.
- NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_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." NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_provenance.
- NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_assertion evidence source_evidence_curated NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_provenance.
- NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_assertion SIO_000772 22842229 NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_provenance.
- NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_assertion wasDerivedFrom ctd_human-20130708 NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_provenance.
- NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_assertion wasGeneratedBy ECO_0000218 NP24186.RApKNa9TLNf9HdoB-m5JH24WFaQZcg84Cnnz6LcqxDSEE130_provenance.