http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_head http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_assertion http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_assertion http://identifiers.org/ncbigene/8200 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/C0038018 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#DGNaed7f64ebd2bc8a019d94551556f6c32 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8200 http://rdf.disgenet.org/gene-disease-association.ttl#DGNaed7f64ebd2bc8a019d94551556f6c32 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0038018 http://rdf.disgenet.org/gene-disease-association.ttl#DGNaed7f64ebd2bc8a019d94551556f6c32 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_provenance http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_assertion http://purl.org/dc/terms/description [Our findings illustrate that nonpenetrance for the typical features of BDC can be appreciable and that atypical skeletal features that have been reported in some patients with BDC (i.e., clubfoot, short stature, spondylolysis) may also result from CDMP-1 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_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#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12567410 http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_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#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_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#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://purl.org/dc/terms/created 2014-10-02T12:39:31+02:00 http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP744420.RAjJU3oyDvxXrmxzFQGZ4TZTt2S-LHZIQlCpAwrr4L9cU 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