http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_head http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion http://identifiers.org/ncbigene/6657 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/C0026010 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/gene-disease-association.ttl#DGNc3692136b3bf0198761ab3640041b6e6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6657 http://rdf.disgenet.org/gene-disease-association.ttl#DGNc3692136b3bf0198761ab3640041b6e6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026010 http://rdf.disgenet.org/gene-disease-association.ttl#DGNc3692136b3bf0198761ab3640041b6e6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_provenance http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion http://purl.org/dc/terms/description [A previously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo missense mutation, R74P, that alters a highly evolutionarily conserved residue within the high mobility group domain, which is critical for DNA-binding of SOX2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16543359 http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/dc/terms/created 2014-10-02T12:36:01+02:00 http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP404746.RA4IU_RAkTMFMnVvM6eoFn4GnPAKH50GdWSP_sPq54k9s http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0