http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_head http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_assertion http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_provenance http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_assertion http://identifiers.org/ncbigene/3930 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/C2931048 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/resource/gda/DGNa45938597fdc6c73bf482b118fdd0c45 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3930 http://rdf.disgenet.org/resource/gda/DGNa45938597fdc6c73bf482b118fdd0c45 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931048 http://rdf.disgenet.org/resource/gda/DGNa45938597fdc6c73bf482b118fdd0c45 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_provenance http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_assertion http://purl.org/dc/terms/description [It has remained unclear whether the lethality in Greenberg dysplasia is due to cholesterol defects or altered nuclear morphology.To answer this question we characterized two LBR missense mutations and showed that they cause Greenberg dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21327084 http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v3.0.0/void/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/dc/terms/created 2015-08-25T14:42:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP532269.RAg3SSxsvUE_IqZuGT17aLLOsSNkRLth-I4NnJ3Vg0ZME http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0