Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_provenance.
- NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_assertion wasGeneratedBy ECO_0000218 NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_provenance.
- NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_assertion wasDerivedFrom uniprot-20150221 NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_provenance.
- NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_assertion SIO_000772 24449431 NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_provenance.
- NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_assertion evidence source_evidence_curated NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_provenance.
- NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_assertion description "[Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_provenance.