http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_head http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_provenance http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion http://identifiers.org/ncbigene/5080 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/C0004352 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/DGN0e8a6e09129d932d14d22ede0c202b9e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5080 http://rdf.disgenet.org/resource/gda/DGN0e8a6e09129d932d14d22ede0c202b9e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0004352 http://rdf.disgenet.org/resource/gda/DGN0e8a6e09129d932d14d22ede0c202b9e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_provenance http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion http://purl.org/dc/terms/description [Thus, the unique genotype identified in this study suggested that haploinsufficiencies of PAX6 or PRRG4 included in this region are candidate genes for severe developmental delay and autistic features characteristic of WAGR syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_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/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24357251 http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_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/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://purl.org/dc/terms/created 2015-08-25T14:43:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP610302.RAvcnAFo_XjKuFLteQiGD7sIw6N3TOuSWJe5rQx82g3vw 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