http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_head http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_assertion http://identifiers.org/ncbigene/1654 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/C0026827 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/DGNa9356a11393aaa81863b9c18a999fa67 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1654 http://rdf.disgenet.org/resource/gda/DGNa9356a11393aaa81863b9c18a999fa67 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026827 http://rdf.disgenet.org/resource/gda/DGNa9356a11393aaa81863b9c18a999fa67 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_assertion http://purl.org/dc/terms/description [In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with ID and various other features including hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_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/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26235985 http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_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/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://purl.org/dc/terms/created 2016-05-13T12:51:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1291689.RAhXekO5rqlTfoVflxzePcEQrW6h6x6brg_ajefyzANPQ 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