http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_head http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_assertion http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_provenance http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_assertion http://identifiers.org/ncbigene/170302 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/C0020225 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/DGN796461662d439f0e835f77481af3e548 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/170302 http://rdf.disgenet.org/resource/gda/DGN796461662d439f0e835f77481af3e548 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020225 http://rdf.disgenet.org/resource/gda/DGN796461662d439f0e835f77481af3e548 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_provenance http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_assertion http://purl.org/dc/terms/description [Recently, longer expansion of the first polyalanine tract of ARX was found to be causative for Ohtahara syndrome without brain malformation, whereas premature termination mutations of ARX were found to cause severe brain malformations, such as lissencephaly or hydranencephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_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/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20384723 http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_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/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://purl.org/dc/terms/created 2016-05-13T12:47:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP805574.RAmCGT9noiV0mvJhN4vt89RfeDL5iFmc_YWJ0lObPzBMk 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