Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_provenance.
- NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_assertion description "[Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_provenance.
- NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_assertion evidence source_evidence_curated NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_provenance.
- NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_assertion SIO_000772 17068770 NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_provenance.
- NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_assertion wasDerivedFrom uniprot-20150221 NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_provenance.
- NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_assertion wasGeneratedBy ECO_0000218 NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP2718.RAIwzTpPl5EuYRkoVAG7NwuLGJlbRu1lrUlCOUH2P8JgE130_provenance.