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<http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.nanopub.org/nschema#Assertion> <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_head> .
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<http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_publicationInfo> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.nanopub.org/nschema#PublicationInfo> <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_head> .
<http://identifiers.org/ncbigene/6662> <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#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion> .
<http://linkedlifedata.com/resource/umls/id/C1861922> <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#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion> .
<http://rdf.disgenet.org/gene-disease-association.ttl#DGN104806d443a114174a672a22d9f3d140> <http://semanticscience.org/resource/SIO_000628> <http://identifiers.org/ncbigene/6662> <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion> .
<http://rdf.disgenet.org/gene-disease-association.ttl#DGN104806d443a114174a672a22d9f3d140> <http://semanticscience.org/resource/SIO_000628> <http://linkedlifedata.com/resource/umls/id/C1861922> <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion> .
<http://rdf.disgenet.org/gene-disease-association.ttl#DGN104806d443a114174a672a22d9f3d140> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://semanticscience.org/resource/SIO_001122> <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion> .
<http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion> <http://purl.org/dc/terms/description> "[Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_provenance> .
<http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion> <http://purl.org/ontology/wi/core#evidence> <http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated> <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_provenance> .
<http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion> <http://semanticscience.org/resource/SIO_000772> <http://identifiers.org/pubmed/20513132> <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_provenance> .
<http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion> <http://www.w3.org/ns/prov#wasDerivedFrom> <http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724> <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_provenance> .
<http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_assertion> <http://www.w3.org/ns/prov#wasGeneratedBy> <http://purl.obolibrary.org/obo/eco.owl#ECO_0000218> <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_provenance> .
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<http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated> <http://www.w3.org/2000/01/rdf-schema#comment> "Gene-disease associations manually curated."@en <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_provenance> .
<http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated> <http://www.w3.org/2000/01/rdf-schema#label> "DisGeNET evidence - CURATED"@en <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_provenance> .
<http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724> <http://purl.org/pav/2.0/importedOn> "2013-07-24"^^<http://www.w3.org/2001/XMLSchema#date> <http://rdf.disgenet.org/nanopublications.trig#NP6315.RAYP1GwG1edjVxX64YzELCIdfkAiPqezT26-1tV2rcHj4130_provenance> .
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