Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_provenance.
- befree-20150227 importedOn "2015-02-27" NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_provenance.
- NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_assertion wasGeneratedBy ECO_0000203 NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_provenance.
- NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_assertion wasDerivedFrom befree-20150227 NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_provenance.
- NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_assertion SIO_000772 19479962 NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_provenance.
- NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_assertion evidence source_evidence_literature NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_provenance.
- NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_assertion description "[Mucopolysaccharidosis (MPS) type IIIC or Sanfilippo syndrome type C is a rare autosomal recessive disorder caused by the deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA (AcCoA): alpha-glucosaminide N-acetyltransferase (HGSNAT; EC 2.3.1.78), which catalyzes transmembrane acetylation of the terminal glucosamine residues of heparan sulfate prior to their hydrolysis by alpha-N-acetylglucosaminidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP584613.RAzdGoajQEGEiJxvK4EBUx44fKuxuqUa5Vsw4Bn7XNrks130_provenance.