http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_head http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_assertion http://identifiers.org/ncbigene/470 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/C0238052 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#DGN753e3c8c36c7d9723490bf24c1090234 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/470 http://rdf.disgenet.org/gene-disease-association.ttl#DGN753e3c8c36c7d9723490bf24c1090234 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0238052 http://rdf.disgenet.org/gene-disease-association.ttl#DGN753e3c8c36c7d9723490bf24c1090234 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_assertion http://purl.org/dc/terms/description [Another notable difference was that the propositus' son (24 years old), who carried the 78dup27 mutation, had no clinical symptoms or bone abnormalities, except for increased serum ALP, OC and CTX.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_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#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19578385 http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_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#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_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#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://purl.org/dc/terms/created 2014-10-02T12:37:47+02:00 http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP576292.RA3sjjheNDpgN8g785ST5ysZhW53flbvCHINajsuSzQZY 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