http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#head
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#assertion
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#provenance
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#assertion
http://rdf.disgenet.org/resource/gda/DGNcbd10d6d3ecb533a5e8a760c12a331bf
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4000
http://rdf.disgenet.org/resource/gda/DGNcbd10d6d3ecb533a5e8a760c12a331bf
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1533847
http://rdf.disgenet.org/resource/gda/DGNcbd10d6d3ecb533a5e8a760c12a331bf
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#provenance
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#assertion
http://purl.org/dc/terms/description
[This reveals that the LMNA gene insertion mutation (T510Y frameshift mutation) can cause dilated cardiomyopathy, conduction system disease, and sudden cardiac death without skeletal myopathy, clinically manifested with early onset, severe symptoms, and poor prognosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/23793583
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/dc/terms/created
2017-10-17T13:14:19+02:00
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP647902.RAXyocMejLpyPT8fuRhhgtkRYPDxIj0e2jsSjL9CpT1Tk
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0