http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#head http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#assertion http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#provenance http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#assertion http://rdf.disgenet.org/resource/gda/DGNe778bdc77bb048315c2bef6002a3717d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/324 http://rdf.disgenet.org/resource/gda/DGNe778bdc77bb048315c2bef6002a3717d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0206677 http://rdf.disgenet.org/resource/gda/DGNe778bdc77bb048315c2bef6002a3717d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#provenance http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#assertion http://purl.org/dc/terms/description [Germline mutations (nonsense, frameshift) of APC are associated with familial adenomatous polyposis, an autosomal dominant syndrome, clinically characterized by young onset, hundreds of adenomatous polyps in the colon, and increased risk for extracolonic tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#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/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10630180 http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#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/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://purl.org/dc/terms/created 2017-10-17T13:10:29+02:00 http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP48231.RA48hqB3pErQmQ6N03nUJVzm2emdH1cUQoqOB7g5ThobY 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