Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_provenance.
- NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_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." NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_provenance.
- NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_assertion evidence source_evidence_curated NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_provenance.
- NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_assertion SIO_000772 19461874 NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_provenance.
- NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_assertion wasDerivedFrom uniprot-20150221 NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_provenance.
- NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_assertion wasGeneratedBy ECO_0000218 NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP2294.RAdx2IX1LRvMHthqxoADU4vPJAk9pXcRcrgd10GH_e53c130_provenance.