http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_head
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_assertion
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_provenance
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_assertion
http://identifiers.org/ncbigene/7337
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/C1510586
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/DGNb4948886086d5c0ca4cdbba9309312ae
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7337
http://rdf.disgenet.org/resource/gda/DGNb4948886086d5c0ca4cdbba9309312ae
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1510586
http://rdf.disgenet.org/resource/gda/DGNb4948886086d5c0ca4cdbba9309312ae
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_provenance
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_assertion
http://purl.org/dc/terms/description
[Screening of a control population for novel coding variants in CACNA1C, CDKL5, HOXA1, SHANK3, TSC1, TSC2 and UBE3A by the same sequencing technology revealed that controls were carriers of oligogenic heterozygous events at significantly (P < 0.01) lower rate, suggesting oligogenic heterozygosity as a new potential mechanism in the pathogenesis of ASDs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21624971
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://purl.org/pav/importedOn
2015-02-27
http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/dc/terms/created
2015-08-25T14:45:22+02:00
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP765040.RAQTIAgX855PXefPmFQz9HfOR6zrAHrt0B0VQUPasxdxg
http://purl.org/pav/version
v3.0.0.0
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v3.0.0