http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_head http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_assertion http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_assertion http://identifiers.org/ncbigene/152503 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/C0018798 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#DGNa04948ca1562f6032de99319d13c60b2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/152503 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa04948ca1562f6032de99319d13c60b2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018798 http://rdf.disgenet.org/gene-disease-association.ttl#DGNa04948ca1562f6032de99319d13c60b2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_assertion http://purl.org/dc/terms/description [Interestingly, all patients with cardiac involvement were homozygous for one of these mutations: R59H, Y591C, Y591N, or IVS14-2A>G. In contrast, all other patients were compound heterozygous for one of the following mutations: R201H, R482H, G579D, IVS8+2T>C. Although we could not directly correlate the presence of cardiac abnormalities with specific genetic lesions, the mutations identified in patients with cardiomyopathy fell in the GLB1 cDNA region common to the lysosomal enzyme and the Hbeta-Gal-related protein, also known as the elastin binding protein (EBP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_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#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10737981 http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_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#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_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#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://purl.org/dc/terms/created 2014-10-02T12:40:54+02:00 http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP873274.RAOIoFgUejYqsPgJLDXTdUzylDJHdOnsC0R7UUZR5_rG4 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