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<http://identifiers.org/ncbigene/57556> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612> <http://rdf.disgenet.org/nanopublications.trig#NP305932.RAK-BcTsOwtoFApFUmqG8sKhM7SmckSDLbn2bxu7k-hdc130_assertion> .
<http://linkedlifedata.com/resource/umls/id/C0013720> <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/nanopublications.trig#NP305932.RAK-BcTsOwtoFApFUmqG8sKhM7SmckSDLbn2bxu7k-hdc130_assertion> .
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<http://rdf.disgenet.org/gene-disease-association.ttl#DGNe30203710b3d3aefb0044d249c4d246f> <http://semanticscience.org/resource/SIO_000628> <http://linkedlifedata.com/resource/umls/id/C0013720> <http://rdf.disgenet.org/nanopublications.trig#NP305932.RAK-BcTsOwtoFApFUmqG8sKhM7SmckSDLbn2bxu7k-hdc130_assertion> .
<http://rdf.disgenet.org/gene-disease-association.ttl#DGNe30203710b3d3aefb0044d249c4d246f> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://semanticscience.org/resource/SIO_001121> <http://rdf.disgenet.org/nanopublications.trig#NP305932.RAK-BcTsOwtoFApFUmqG8sKhM7SmckSDLbn2bxu7k-hdc130_assertion> .
<http://rdf.disgenet.org/nanopublications.trig#NP305932.RAK-BcTsOwtoFApFUmqG8sKhM7SmckSDLbn2bxu7k-hdc130_assertion> <http://purl.org/dc/terms/description> "[The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en <http://rdf.disgenet.org/nanopublications.trig#NP305932.RAK-BcTsOwtoFApFUmqG8sKhM7SmckSDLbn2bxu7k-hdc130_provenance> .
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<http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225> <http://purl.org/pav/2.0/importedOn> "2014-02-25"^^<http://www.w3.org/2001/XMLSchema#date> <http://rdf.disgenet.org/nanopublications.trig#NP305932.RAK-BcTsOwtoFApFUmqG8sKhM7SmckSDLbn2bxu7k-hdc130_provenance> .
<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/nanopublications.trig#NP305932.RAK-BcTsOwtoFApFUmqG8sKhM7SmckSDLbn2bxu7k-hdc130_provenance> .
<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."@en <http://rdf.disgenet.org/nanopublications.trig#NP305932.RAK-BcTsOwtoFApFUmqG8sKhM7SmckSDLbn2bxu7k-hdc130_provenance> .
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