http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_head
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_assertion
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_provenance
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_assertion
http://identifiers.org/ncbigene/4000
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/C0018799
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/DGNffba48ad2d7b5395e1d35b509db483c2
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4000
http://rdf.disgenet.org/resource/gda/DGNffba48ad2d7b5395e1d35b509db483c2
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0018799
http://rdf.disgenet.org/resource/gda/DGNffba48ad2d7b5395e1d35b509db483c2
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_provenance
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_assertion
http://purl.org/dc/terms/description
[Analyses of the contribution of these mutations showed 1) the EMD codon deletion acts in X-linked dominant fashion and was sufficient to induce the cardiac disease, 2) the combination of both the hemizygous EMD and the homozygous LMNA mutations was necessary to induce the EDMD phenotype, 3) emerin was present in reduced amount in EMD-mutated cells, and 4) lamin A/C and emerin expression was most dramatically affected in the doubly mutated fibroblasts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_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/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/17536044
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_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/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://purl.org/dc/terms/created
2015-08-25T14:42:58+02:00
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP537405.RAzz8NtfN491CkI9CmdSI9cw-Ud6YMBQxSS9GXzL5-2rg
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