http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#head
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#assertion
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#assertion
http://rdf.disgenet.org/resource/gda/DGN4da6b824e8e7c1e6c90540a270c76e31
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7157
http://rdf.disgenet.org/resource/gda/DGN4da6b824e8e7c1e6c90540a270c76e31
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0027708
http://rdf.disgenet.org/resource/gda/DGN4da6b824e8e7c1e6c90540a270c76e31
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#assertion
http://purl.org/dc/terms/description
[In a typical morning in the Cancer Genetics Clinic at The Hospital for Sick Children in Toronto, the following array of patients and families might be seen: a family of three children, all harbouring a mutation of the succinyl dehydrogenase C gene inherited from their father who had had extensive surgery several years ago for a secreting paraganglioma; three families with Li-Fraumeni syndrome, each with at least one child harbouring a TP53 gene mutation conferring a lifetime risk of cancer approaching 100% and currently undergoing surveillance for early tumour detection; two children with Li-Fraumeni syndrome undergoing treatment for cancer - one having had three cancer diagnoses before 19 months of age and the other just completing therapy for metastatic adrenocortical carcinoma at age 3; two children with von Hippel-Lindau disease being monitored for persistent pancreatic neuroendocrine tumors and cerebellar hemangioblastomas, respectively; and one child with Beckwith-Wiedeman syndrome and Wilms tumor and another child completing therapy for a pleuropulmonary blastoma (PPB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#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/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26833171
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#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/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://purl.org/dc/terms/created
2017-10-17T13:16:54+02:00
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1052909.RADdvU0oBeNcSS6A6y8hB9aLaCKxkSAzUgqB902h62nbQ
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