http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_head http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_assertion http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_provenance http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_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/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_provenance http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_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/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_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/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24357251 http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_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/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://purl.org/dc/terms/created 2016-05-13T12:50:22+02:00 http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1138562.RAY2y9XndeXta6O_MkuBBAKGjE8w3ZImGW4c0hJUfBtoI 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