http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#head http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#assertion http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#provenance http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#assertion http://rdf.disgenet.org/resource/gda/DGNa5831604c096018d341420ab2aac1d49 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55636 http://rdf.disgenet.org/resource/gda/DGNa5831604c096018d341420ab2aac1d49 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265354 http://rdf.disgenet.org/resource/gda/DGNa5831604c096018d341420ab2aac1d49 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#provenance http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#assertion http://purl.org/dc/terms/description [These optimised parameters were then applied to an MRI screen of embryos heterozygous for the gene Chd7, implicated in coloboma of the eye, heart defects, atresia of the choanae, retardation of growth, genital/urinary abnormalities, ear abnormalities and deafness (CHARGE) syndrome (a condition partly characterised by cardiovascular birth defects in humans).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#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/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19598179 http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#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/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://purl.org/dc/terms/created 2017-10-17T13:18:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1335778.RAj5aaS3ksqDI24rl3FGEuSzKY-JotEnqPAqrBuijpUdc 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