Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_provenance.
- NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_assertion description "[Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_provenance.
- NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_assertion evidence source_evidence_curated NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_provenance.
- NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_assertion SIO_000772 14695538 NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_provenance.
- NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_assertion wasDerivedFrom uniprot-20130724 NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_provenance.
- NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_assertion wasGeneratedBy ECO_0000218 NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP551.RATb3OZ-8kCMg2Q-LZow6UF09UrHEBG4LkSyz9FMVQJJc130_provenance.