http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_head http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_assertion http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_provenance http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_assertion http://identifiers.org/ncbigene/79158 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0026697 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN7d90a99800f44cc6d11ade356cb0cc98 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/79158 http://rdf.disgenet.org/resource/gda/DGN7d90a99800f44cc6d11ade356cb0cc98 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026697 http://rdf.disgenet.org/resource/gda/DGN7d90a99800f44cc6d11ade356cb0cc98 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_provenance http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_assertion http://purl.org/dc/terms/description [The results of this study confirm that Mucolipidosis (ML) II or ML III phenotype is not due to the localization of the mutations, but rather to the severity of the GNPTA mutations]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16630736 http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/lhgdn-20090331 http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/lhgdn-20090331 http://purl.org/pav/importedOn 2009-03-31 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/dc/terms/created 2015-08-25T14:39:43+02:00 http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP216911.RAC0BEZvL8oGxGik-4UODyhQ7T_LFvgU2P17sATDpZxho http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0