http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_head http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_assertion http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_provenance http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_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/gene-disease-association.ttl#DGNb1823aff5d2c3790890bffa0e1370895 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9469 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb1823aff5d2c3790890bffa0e1370895 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0432242 http://rdf.disgenet.org/gene-disease-association.ttl#DGNb1823aff5d2c3790890bffa0e1370895 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_provenance http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_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/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20830804 http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/dc/terms/created 2014-10-02T12:37:30+02:00 http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP547630.RAJ5WHIwqb0CrWEz4HlS_Bfst93nScKv7aq-DwsBXbz1Q http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0