Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_provenance.
- NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_assertion wasGeneratedBy ECO_0000218 NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_provenance.
- NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_assertion wasDerivedFrom uniprot-20130724 NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_provenance.
- NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_assertion SIO_000772 14566483 NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_provenance.
- NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_assertion evidence source_evidence_curated NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_provenance.
- NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_assertion description "[Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP2993.RAemsctlfsCGfAFvaiAFBckqio4Igf2OFFHw7vKQHeu2w130_provenance.