http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_head http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_assertion http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_provenance http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_assertion http://identifiers.org/ncbigene/10054 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/C0266463 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/DGN761b4a8961d5bc14a612b2fa11c081a6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10054 http://rdf.disgenet.org/resource/gda/DGN761b4a8961d5bc14a612b2fa11c081a6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0266463 http://rdf.disgenet.org/resource/gda/DGN761b4a8961d5bc14a612b2fa11c081a6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_provenance http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_assertion http://purl.org/dc/terms/description [Mutations in the human ARX gene show unusually heterogeneous clinical presentations, including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with spasticity, and lissencephaly with abnormal genitalia, that are believed to arise from an impairment of the embryonic mechanisms building the anterior central nervous system structures.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_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/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15376319 http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_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/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://purl.org/dc/terms/created 2015-08-25T14:46:07+02:00 http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP835520.RA9i2Jij7sIDbHrv97N0gA3PdkUuLTjUhj5ovT7WXbRtE 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