http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_head
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_assertion
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_provenance
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_assertion
http://identifiers.org/ncbigene/9469
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/C0432242
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/DGNb1823aff5d2c3790890bffa0e1370895
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/9469
http://rdf.disgenet.org/resource/gda/DGNb1823aff5d2c3790890bffa0e1370895
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0432242
http://rdf.disgenet.org/resource/gda/DGNb1823aff5d2c3790890bffa0e1370895
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_provenance
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_assertion
http://purl.org/dc/terms/description
[The clinical and radiographic pattern (joint dislocations, vertebral changes, normal carpal age, lack of facial flattening, and recessive inheritance) is characteristic and distinguishes CHST3 deficiency from other disorders with congenital dislocations such as filamin B-associated dominant Larsen syndrome and Desbuquois syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_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/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/20830804
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
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/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://purl.org/dc/terms/created
2015-08-25T14:45:59+02:00
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP824382.RAHHP6H1iEVDuoWpdMi-XTiJzOizH-E8wurLqYrolM3sc
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