http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#head
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#assertion
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#provenance
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#assertion
http://rdf.disgenet.org/resource/gda/DGNfc107df2293402b8f2ef988f775d0773
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3381
http://rdf.disgenet.org/resource/gda/DGNfc107df2293402b8f2ef988f775d0773
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0175699
http://rdf.disgenet.org/resource/gda/DGNfc107df2293402b8f2ef988f775d0773
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#provenance
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#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/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#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/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/15829502
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#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/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://purl.org/dc/terms/created
2017-10-17T13:13:33+02:00
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP529711.RAmz3HUWro6EEl6nUqbfdW-Wt2W2E_yZB_8cR7KGcuYPc
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