http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_head http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion http://identifiers.org/ncbigene/26123 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/C0024507 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#DGNa89f9c0ecc6daa821640cf42f170eac9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/26123 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa89f9c0ecc6daa821640cf42f170eac9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0024507 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa89f9c0ecc6daa821640cf42f170eac9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion http://purl.org/dc/terms/description [Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_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#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22883145 http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_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#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_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#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://purl.org/dc/terms/created 2014-10-02T12:39:16+02:00 http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP717658.RA8wcYXBbfMqO7Tr_2lZrn1AWyDcgb4HP7bhUwTn6atMY 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