http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_head
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_assertion
http://identifiers.org/ncbigene/3425
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/C0086795
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/DGN2c4c684fcb16122c3e9d802a14d6f40b
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3425
http://rdf.disgenet.org/resource/gda/DGN2c4c684fcb16122c3e9d802a14d6f40b
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0086795
http://rdf.disgenet.org/resource/gda/DGN2c4c684fcb16122c3e9d802a14d6f40b
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_assertion
http://purl.org/dc/terms/description
[Previous studies in Caucasian populations showed that (1) homozygosity or compound heterozygosity for the W402X and Q70X mutations are the common causes of MPS-I with a severe form (Hurler syndrome), and (2) the presence of R89Q may lead to a milder phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/8664897
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://purl.org/pav/importedOn
2016-02-19
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/dc/terms/created
2016-05-13T12:51:59+02:00
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1351861.RASifoylwAdU0-8JG6S6yYTWBf105Pcjv48pDRBsqvrwo
http://purl.org/pav/version
v4.0.0.0
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v4.0.0