http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_head http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_assertion http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_provenance http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_assertion http://identifiers.org/ncbigene/2006 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/resource/gda/DGNf65c9339bf71c5a994ca51849410f3b2 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2006 http://rdf.disgenet.org/resource/gda/DGNf65c9339bf71c5a994ca51849410f3b2 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018798 http://rdf.disgenet.org/resource/gda/DGNf65c9339bf71c5a994ca51849410f3b2 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_provenance http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_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/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10737981 http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/dc/terms/created 2016-05-13T12:43:52+02:00 http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP279276.RAN4cwJ3up1lLWioTv8WNBq9SdknBSjL3wgKU6yR2JuAs http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0