http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_head http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_assertion http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_assertion http://identifiers.org/ncbigene/5351 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/C0013720 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#DGN8fa70a5a3dbbceb45201f9887ddb5685 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5351 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8fa70a5a3dbbceb45201f9887ddb5685 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013720 http://rdf.disgenet.org/gene-disease-association.ttl#DGN8fa70a5a3dbbceb45201f9887ddb5685 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_assertion http://purl.org/dc/terms/description [We report a 12-month-old boy with kyphoscoliosis and delayed gross motor development, in whom the differential diagnosis of kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI) was initially suspected and successively confirmed by the abnormal urinary ratio of total pyridinolines (LP to HP), and by mutation analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_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#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18155911 http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_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#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_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#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://purl.org/dc/terms/created 2014-10-02T12:40:23+02:00 http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP821881.RA1tFbSR2UE2ulEq0Avw2pC1PTgskt6VFBmD17KvbjQRg 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