http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#head http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#assertion http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#provenance http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#assertion http://rdf.disgenet.org/resource/gda/DGN71a214b8cdd4204ada3863f852f1e058 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1806 http://rdf.disgenet.org/resource/gda/DGN71a214b8cdd4204ada3863f852f1e058 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0241210 http://rdf.disgenet.org/resource/gda/DGN71a214b8cdd4204ada3863f852f1e058 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#provenance http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#assertion http://purl.org/dc/terms/description [Our study suggests that hemizygous deletions involving the DPYD locus present with variable phenotypes which can include speech delay and autistic features, and may also be influenced by additional mutations in other genes, issues which need to be considered in genetic counseling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#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/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21114665 http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#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/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://purl.org/dc/terms/created 2017-10-17T13:12:04+02:00 http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP298133.RAlagabROpUHe44lYV4VDyR7ba81ERho0k9JnIjxthkPM 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