http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_head http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_assertion http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_assertion http://identifiers.org/ncbigene/2318 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/resource/gda/DGN767a9a77f83bec81dcf3b97363dbac16 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2318 http://rdf.disgenet.org/resource/gda/DGN767a9a77f83bec81dcf3b97363dbac16 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751336 http://rdf.disgenet.org/resource/gda/DGN767a9a77f83bec81dcf3b97363dbac16 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_provenance http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_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/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_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/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23109048 http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_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/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://purl.org/dc/terms/created 2016-05-13T12:49:30+02:00 http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1024736.RA0Az6-c1L8r93BmyyH7x7wvLDT_YEsDLHehN2oM1QDHM 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