http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_head http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_assertion http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_provenance http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_assertion http://identifiers.org/ncbigene/2200 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/C0013336 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/DGN3e1f90709709a0e90f12484de8c4d4c3 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2200 http://rdf.disgenet.org/resource/gda/DGN3e1f90709709a0e90f12484de8c4d4c3 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013336 http://rdf.disgenet.org/resource/gda/DGN3e1f90709709a0e90f12484de8c4d4c3 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_provenance http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_assertion http://purl.org/dc/terms/description [Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_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/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21683322 http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_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/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://purl.org/dc/terms/created 2016-05-13T12:48:33+02:00 http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP902946.RAS_5eRz735b9_aLKMAL5v5d8lgajs6OH9OhyXZpIcyDg 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