Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_provenance.
- NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_assertion wasGeneratedBy ECO_0000218 NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_provenance.
- NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_assertion wasDerivedFrom uniprot-20130724 NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_provenance.
- NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_assertion SIO_000772 19068277 NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_provenance.
- NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_assertion evidence source_evidence_curated NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_provenance.
- NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_assertion description "[Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP2154.RAqAKt8m85Eb9aZ5kjjZTcS5e1mTEkO2S0Wh0zxre_2bU130_provenance.