http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#head http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#assertion http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#provenance http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#assertion http://rdf.disgenet.org/resource/gda/DGNd4fdba839ff513f055baf62a53312c9f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2200 http://rdf.disgenet.org/resource/gda/DGNd4fdba839ff513f055baf62a53312c9f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0024796 http://rdf.disgenet.org/resource/gda/DGNd4fdba839ff513f055baf62a53312c9f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#provenance http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#assertion http://purl.org/dc/terms/description [Although enhanced TGF? 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/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#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/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21683322 http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#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/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://purl.org/dc/terms/created 2017-10-17T13:12:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP388425.RA63Fmn3rqlLg6qQ5mJQZjiOCdKzheKMwoobu7881hePY 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