http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_head
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_assertion
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_assertion
http://identifiers.org/ncbigene/4292
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/C0206684
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/DGNbfa33e154761e3f03eb7ceb619a6abce
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4292
http://rdf.disgenet.org/resource/gda/DGNbfa33e154761e3f03eb7ceb619a6abce
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0206684
http://rdf.disgenet.org/resource/gda/DGNbfa33e154761e3f03eb7ceb619a6abce
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_provenance
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_assertion
http://purl.org/dc/terms/description
[We report the case of a 52-year-old caucasian woman with the development of metachronous colon cancer at the age of 38 years, uterine cancer at the age of 43 years, and unique occurrence of synchronous gastric and sebaceous carcinomas related to germline point mutation c. 2194A>T in the last exon of MLH1 gene, resulting in truncated protein in C-terminal region p. Lys732X due to premature stop codon.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_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/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25197397
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_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/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://purl.org/dc/terms/created
2016-05-13T12:50:58+02:00
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw
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