http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_head http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_assertion http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_provenance http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_assertion http://identifiers.org/ncbigene/3381 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/C0175699 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/DGNf98064cc8b94800c51f36cbf23d3f3c4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3381 http://rdf.disgenet.org/resource/gda/DGNf98064cc8b94800c51f36cbf23d3f3c4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0175699 http://rdf.disgenet.org/resource/gda/DGNf98064cc8b94800c51f36cbf23d3f3c4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_provenance http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_assertion http://purl.org/dc/terms/description [Cranial osteoblasts from an SCS patient with a Y103X mutation inducing deletion of the Twist bHLH domain showed decreased Fgfr2 mRNA levels associated with decreased expression of Runx2, bone sialoprotein (BSP) and osteocalcin (OC), markers of differentiated osteoblasts, compared with wild-type osteoblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_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/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15829502 http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_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/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://purl.org/dc/terms/created 2016-05-13T12:45:27+02:00 http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP489832.RAPqO8qq4UcCLUwHQDDYh1N--_XUUnkJmuw_xaoKWcveo 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