http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_head http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_assertion http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_provenance http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_assertion http://identifiers.org/ncbigene/4167 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/C0730294 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#DGN98a3c19b37f442a823bea82ad273a8d7 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4167 http://rdf.disgenet.org/gene-disease-association.ttl#DGN98a3c19b37f442a823bea82ad273a8d7 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0730294 http://rdf.disgenet.org/gene-disease-association.ttl#DGN98a3c19b37f442a823bea82ad273a8d7 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_provenance http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_assertion http://purl.org/dc/terms/description [MCDR1 interval was refined to 3 cM (1.8mb) between D6S1716 to D6S1671 via fine mapping using microsatellite markers in these six families, all eleven annotated genes within the interval were analyzed by mutation screening in coding regions, no mutation was found, suggesting a potential novel gene or a new pathological mechanism causing NCMD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_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#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17976682 http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_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#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_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#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://purl.org/dc/terms/created 2014-10-02T12:41:31+02:00 http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP931475.RAoFH1j5YsW2FocyY81P8Y9K3NKi7I3-zQJ0TMkqcgu7s 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