http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#head
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#assertion
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#assertion
http://rdf.disgenet.org/resource/gda/DGNe47dd8156706bfe722c61d8879429a5b
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/583
http://rdf.disgenet.org/resource/gda/DGNe47dd8156706bfe722c61d8879429a5b
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0752166
http://rdf.disgenet.org/resource/gda/DGNe47dd8156706bfe722c61d8879429a5b
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#assertion
http://purl.org/dc/terms/description
[The significant genetic and clinical heterogeneity of this condition have substantially hindered efforts to positionally clone the numerous BBS genes, because the majority of available pedigrees are small and the disorder cannot be assigned to any of the six known BBS loci.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#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/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/11179009
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#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/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://purl.org/dc/terms/created
2017-10-17T13:10:49+02:00
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP99863.RAYLYSSMXHJf9mhjUVpYpkpI7MGVCpFRerRFr62horsdQ
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