http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#head
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#assertion
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#provenance
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#assertion
http://rdf.disgenet.org/resource/gda/DGNd0556390c9137b43f76a86f2e6277480
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7020
http://rdf.disgenet.org/resource/gda/DGNd0556390c9137b43f76a86f2e6277480
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0008925
http://rdf.disgenet.org/resource/gda/DGNd0556390c9137b43f76a86f2e6277480
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#provenance
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#assertion
http://purl.org/dc/terms/description
[Branchio-oculo-facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular anomalies and facial dysmorphisms, including lip or palate cleft or pseudocleft, and is associated with mutations in the TFAP2A gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#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/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/25590586
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#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/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://purl.org/dc/terms/created
2017-10-17T13:16:37+02:00
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1009264.RAEPRJF5yOSw-embYSjw7_ZVLQ534SPoOqK7dVAFVX0Ec
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