http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#head
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#assertion
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#provenance
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#assertion
http://rdf.disgenet.org/resource/gda/DGNd975b69e27ec6331468d6df345d3be53
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/582
http://rdf.disgenet.org/resource/gda/DGNd975b69e27ec6331468d6df345d3be53
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0752166
http://rdf.disgenet.org/resource/gda/DGNd975b69e27ec6331468d6df345d3be53
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#provenance
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#assertion
http://purl.org/dc/terms/description
[We provide the first evidence of BBS12 mutations related to severe phenotypes as previously described for patients with BBS10, while BBS1 ocular phenotype should not be considered as mild as generally reported when compared with other BBS phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#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/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26082521
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#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/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://purl.org/dc/terms/created
2017-10-17T13:10:49+02:00
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP99688.RADfc8LonpzzPmVpodkKXWm8UK_Fd_XLCLkZIpsOsU7vc
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