http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#head http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#assertion http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#provenance http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#assertion http://rdf.disgenet.org/resource/gda/DGN3bc655a0b5db8f0e73909652b70b0e04 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4089 http://rdf.disgenet.org/resource/gda/DGN3bc655a0b5db8f0e73909652b70b0e04 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0685938 http://rdf.disgenet.org/resource/gda/DGN3bc655a0b5db8f0e73909652b70b0e04 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#provenance http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#assertion http://purl.org/dc/terms/description [The identification of SMAD4 mutations in HHT patients without prior diagnosis of JP has significant and immediate clinical implications, as these people are likely to be at risk of having JP-HHT with the associated increased risk of gastrointestinal cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#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/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16613914 http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#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/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://purl.org/dc/terms/created 2017-10-17T13:14:24+02:00 http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP661296.RAWB2gdQupjSe07wVMGpcZ6Ef_e94ockdO7AcytK-GCYQ 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