http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_head http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_assertion http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_assertion http://identifiers.org/ncbigene/1674 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/C0751336 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#DGN868487e2da3d4208a05daa50ef3882ed http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1674 http://rdf.disgenet.org/gene-disease-association.ttl#DGN868487e2da3d4208a05daa50ef3882ed http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751336 http://rdf.disgenet.org/gene-disease-association.ttl#DGN868487e2da3d4208a05daa50ef3882ed http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_provenance http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_assertion http://purl.org/dc/terms/description [More recently, FLNC mutations were also found in families with a distal myopathy phenotype, caused either by mutations in the actin-binding domain of FLNc that result in increased actin-binding and non-specific myopathic abnormalities without myofibrillar myopathy pathology, or a nonsense mutation in the rod domain that leads to RNA instability, haploinsufficiency with decreased expression levels of FLNc in the muscle fibers and myofibrillar abnormalities, but not to the formation of desmin-positive protein aggregates required for the diagnosis of myofibrillar myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_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#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23109048 http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_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#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_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#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://purl.org/dc/terms/created 2014-10-02T12:39:10+02:00 http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP708554.RAVwhmWOHt6h-88ul5Z9-vP24E-OWhNzB7eO6yRckw2eo 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