Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_provenance.
- NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_assertion description "[Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_provenance.
- NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_assertion evidence source_evidence_curated NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_provenance.
- NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_assertion SIO_000772 22703880 NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_provenance.
- NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_assertion wasDerivedFrom uniprot-20130724 NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_provenance.
- NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_assertion wasGeneratedBy ECO_0000218 NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP525.RAWumJOjNgHI_kPs1gXY4FO4uYGn9-qgS7KObo-tu49Yg130_provenance.