Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_provenance.
- NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_assertion description "[CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_provenance.
- NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_assertion evidence source_evidence_curated NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_provenance.
- NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_assertion SIO_000772 19461874 NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_provenance.
- NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_assertion wasDerivedFrom uniprot-20130724 NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_provenance.
- NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_assertion wasGeneratedBy ECO_0000218 NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP850.RAjsTZ0DZkZUkGZKbHlaXmNIi_9Ig94bdL9p9YRIID7-Y130_provenance.