http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_head http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_assertion http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_assertion http://identifiers.org/ncbigene/9401 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/C0035372 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#DGN518dabb5f529db971b455eca1ab4035c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/9401 http://rdf.disgenet.org/gene-disease-association.ttl#DGN518dabb5f529db971b455eca1ab4035c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0035372 http://rdf.disgenet.org/gene-disease-association.ttl#DGN518dabb5f529db971b455eca1ab4035c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_assertion http://purl.org/dc/terms/description [The fact that the mutated alleles were inherited from the parents in one affected family and were not found in ethnically matched controls suggests that mutation of RECQL4 at human chromosome 8q24.3 is responsible for at least some cases of RTS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_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#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10319867 http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_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#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_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#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://purl.org/dc/terms/created 2014-10-02T12:39:17+02:00 http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP719975.RAW_VEJwZD_D3Zc5w3OKWb_uwK-exe9OzS4SLYn98zFtc 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