http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_head http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_assertion http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_assertion http://identifiers.org/ncbigene/3020 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/C1336733 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/DGN544b06747b3b1b9ab745f84be8cd6703 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3020 http://rdf.disgenet.org/resource/gda/DGN544b06747b3b1b9ab745f84be8cd6703 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1336733 http://rdf.disgenet.org/resource/gda/DGN544b06747b3b1b9ab745f84be8cd6703 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_assertion http://purl.org/dc/terms/description [Gain-of-function mutations in ACVR1 occur in tumors of the pons in conjunction with histone H3.1 p.Lys27Met substitution, whereas FGFR1 mutations or fusions occur in thalamic tumors associated with histone H3.3 p.Lys27Met substitution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_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/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24705250 http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_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/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://purl.org/dc/terms/created 2016-05-13T12:50:36+02:00 http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1170661.RAoA6KKMvUQrchB717hOAirGx0jLhUQ7SWGpdHbp4wnTo 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