http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_head http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_assertion http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_provenance http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_assertion http://identifiers.org/ncbigene/7414 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/C0007193 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/DGNb077e2d4482eaaaadb15e233b8230a78 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7414 http://rdf.disgenet.org/resource/gda/DGNb077e2d4482eaaaadb15e233b8230a78 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007193 http://rdf.disgenet.org/resource/gda/DGNb077e2d4482eaaaadb15e233b8230a78 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_provenance http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_assertion http://purl.org/dc/terms/description [The R975W mutation, in the alternatively spliced exon 19 of vinculin (VCL) which yields the isoform metavinculin, was associated previously with hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), and shown to alter in vivo organization of intercalated discs.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_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/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16712796 http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_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/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://purl.org/dc/terms/created 2016-05-13T12:45:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP550641.RA4dftUe4pa3VnU9s-Snmy7sjPGWX6tG9r-Zyl_DoDqwE 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