Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance.
- NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_assertion description "[Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance.
- NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_assertion evidence source_evidence_curated NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance.
- NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_assertion SIO_000772 22842229 NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance.
- NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_assertion wasDerivedFrom uniprot-20130724 NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance.
- NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_assertion wasGeneratedBy ECO_0000218 NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance.