http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#head http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#assertion http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#provenance http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#assertion http://rdf.disgenet.org/resource/gda/DGN2c2f6f1186498eaa333ff5514933408b http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/170302 http://rdf.disgenet.org/resource/gda/DGN2c2f6f1186498eaa333ff5514933408b http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0266463 http://rdf.disgenet.org/resource/gda/DGN2c2f6f1186498eaa333ff5514933408b http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#provenance http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#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/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#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/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20384723 http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#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/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://purl.org/dc/terms/created 2017-10-17T13:19:10+02:00 http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1414092.RAnH3skhEWmbc5c9NHrMBVHGsJaYBdcA_zyCZuhdC3dvY 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