http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#head http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#assertion http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#provenance http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#assertion http://rdf.disgenet.org/resource/gda/DGN837354379037fd042fe719a8a91f6277 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/83990 http://rdf.disgenet.org/resource/gda/DGN837354379037fd042fe719a8a91f6277 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0015625 http://rdf.disgenet.org/resource/gda/DGN837354379037fd042fe719a8a91f6277 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#provenance http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#assertion http://purl.org/dc/terms/description [Mutations in 16 genes (FANCA, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P, and Q) have been identified in patients, with the Fanconi anemia subtype J (FA-J) resulting from homozygous mutations in the FANCJ gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#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/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25070891 http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#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/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://purl.org/dc/terms/created 2017-10-17T13:18:58+02:00 http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1382627.RAiLTOsY-oL25JXRgf0ji-_pa5ekCh5Dw3grAYKVyT70w 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