http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#head
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#assertion
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#provenance
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#assertion
http://rdf.disgenet.org/resource/gda/DGN536b3e12431b73782951b34c5576790f
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5395
http://rdf.disgenet.org/resource/gda/DGN536b3e12431b73782951b34c5576790f
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C3469521
http://rdf.disgenet.org/resource/gda/DGN536b3e12431b73782951b34c5576790f
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#provenance
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#assertion
http://purl.org/dc/terms/description
[Using targeted capture and massively parallel genomic sequencing, 151 subjects with USC were assessed for germline mutations in 30 tumor suppressor genes, including BRCA1 (breast cancer 1, early onset), BRCA2, the DNA mismatch repair genes (MLH1 [mutL homolog 1], MSH2 [mutS homolog 2], MSH6, PMS2 [postmeiotic segregation increased 2]), TP53 (tumor protein p53), and 10 other genes in the Fanconi anemia-BRCA pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#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/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/22811390
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#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/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://purl.org/dc/terms/created
2017-10-17T13:15:30+02:00
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP835465.RAFFiAtKQq0dUvk-QYIPuhALO2_HQBEA4bU4J5BcW7dRs
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