Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_provenance.
- NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_assertion description "[Mucopolysaccharidosis type VI (MPS VI) or Maroteaux-Lamy syndrome, is a autosomal recessive disorder, due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsufatase B, ASB: EC 3.1.6.12).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_provenance.
- NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_assertion evidence source_evidence_curated NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_provenance.
- NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_assertion SIO_000772 10206678 NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_provenance.
- NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_assertion wasDerivedFrom uniprot-2016 NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_provenance.
- NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_assertion wasGeneratedBy ECO_0000218 NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP117.RATXQM8xpNCiAOu59lidS3Nh9avv2-kxaoCw_8t-vdGco130_provenance.