Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_provenance.
- NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_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." NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_provenance.
- NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_assertion evidence source_evidence_curated NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_provenance.
- NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_assertion SIO_000772 17068770 NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_provenance.
- NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_assertion wasDerivedFrom uniprot-2016 NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_provenance.
- NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_assertion wasGeneratedBy ECO_0000218 NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4749.RAztxyCaQkmSveIirTutHc-jQpShpnK7JDinNRugjbhjg130_provenance.