http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_head http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion http://identifiers.org/ncbigene/374654 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0796147 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNcb3958ea007ef20b2c074e47c9604f6c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/374654 http://rdf.disgenet.org/resource/gda/DGNcb3958ea007ef20b2c074e47c9604f6c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0796147 http://rdf.disgenet.org/resource/gda/DGNcb3958ea007ef20b2c074e47c9604f6c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_provenance http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion http://purl.org/dc/terms/description [The finding of known loss of function variants in ciliopathy associated genes, AHI1, BBS2 and BBS4 in addition to KIF7 mutations provides evidence for oligogenic inheritance in ACLS and suggests that this might contribute to the phenotypic variability of KIF7-related disorders.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23142271 http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/dc/terms/created 2016-05-13T12:49:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1027386.RAksNkrLV4qYryLiCVJxVpakuBOxPUSpo1WEXZk396zgo http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0