http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_head http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_assertion http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_provenance http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_assertion http://identifiers.org/ncbigene/10376 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/C1879312 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/DGNf915e8b7a1da5e896b1172bd0f2ee679 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10376 http://rdf.disgenet.org/resource/gda/DGNf915e8b7a1da5e896b1172bd0f2ee679 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1879312 http://rdf.disgenet.org/resource/gda/DGNf915e8b7a1da5e896b1172bd0f2ee679 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_provenance http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_assertion http://purl.org/dc/terms/description [More recently, de novo missense mutations in the alpha-tubulin 1a gene (TUBA1A) located on chromosome 12q13.12, have also been associated with more or less severe defects of cortical development, resulting in complete agyria in the most severe cases of lissencephaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_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/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20376468 http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_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/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://purl.org/dc/terms/created 2016-05-13T12:47:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP804920.RADuvCSu1YBe3PXM0LPw9EX1uHmzEkqHyFiaaAblfecf8 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