Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_assertion> ?p ?o ?g. }
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- NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_assertion type Assertion NP101.RASPvSdKI56NDVI94wrOerAI9IxPLnZWRxpn2EK8BZ1y0130_head.
- 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.