http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#head http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#assertion http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#provenance http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#assertion http://rdf.disgenet.org/resource/gda/DGN7f8e266d071436c927d2f2e4546eb418 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/860 http://rdf.disgenet.org/resource/gda/DGN7f8e266d071436c927d2f2e4546eb418 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0175699 http://rdf.disgenet.org/resource/gda/DGN7f8e266d071436c927d2f2e4546eb418 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#provenance http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#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/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15829502 http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/dc/terms/created 2017-10-17T13:11:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP164391.RAVDh9bziIzp3SRbD-NstHld7nANDNlv-A7dEN5sE_0xM http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0