http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_head http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_assertion http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_assertion http://identifiers.org/ncbigene/79581 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/C0265309 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#DGN45af9e2dbdb23cd22700691adb03d1f7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/79581 http://rdf.disgenet.org/gene-disease-association.ttl#DGN45af9e2dbdb23cd22700691adb03d1f7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265309 http://rdf.disgenet.org/gene-disease-association.ttl#DGN45af9e2dbdb23cd22700691adb03d1f7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_provenance http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_assertion http://purl.org/dc/terms/description [MLPA analysis of SHOX/PAR1 led to the identification of partial and complete SHOX duplications or multiple copies associated with LWD or ISS, suggesting that they may represent an additional class of mutations implicated in the molecular etiology of these clinical entities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_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#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21147883 http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_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#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_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#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://purl.org/dc/terms/created 2014-10-02T12:39:14+02:00 http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP715011.RAWFLZFSAOKWer2TLAQFRyDcFRdcltBIFKWXvTCu4GzEM 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