http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_head http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_assertion http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_assertion http://identifiers.org/ncbigene/4488 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/C0271183 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#DGN1871264eec9a935ab48a9e19d4acfc8d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4488 http://rdf.disgenet.org/gene-disease-association.ttl#DGN1871264eec9a935ab48a9e19d4acfc8d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0271183 http://rdf.disgenet.org/gene-disease-association.ttl#DGN1871264eec9a935ab48a9e19d4acfc8d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_assertion http://purl.org/dc/terms/description [Recognised clinical signs include EXT, FPP, mental retardation, facial asymmetry, asymmetric calcification of coronary sutures, defective vision (severe myopia, nystagmus, strabismus), skeletal anomalies (small hands and feet, tapering fingers), heart defect, and anal stenosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_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#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14872200 http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_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#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_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#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://purl.org/dc/terms/created 2014-10-02T12:40:32+02:00 http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP836829.RAcpgFCxk82FucaR7H_f7Ll2b9sBYqmscyGGI2RgwubTg 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