http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_head http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_assertion http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_assertion http://identifiers.org/ncbigene/5339 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/C1869123 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#DGN9013bead9c909e323eaff3106352378e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5339 http://rdf.disgenet.org/gene-disease-association.ttl#DGN9013bead9c909e323eaff3106352378e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1869123 http://rdf.disgenet.org/gene-disease-association.ttl#DGN9013bead9c909e323eaff3106352378e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_provenance http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_assertion http://purl.org/dc/terms/description [Our data show that one of the isoforms of plectin plays a key role in skeletal muscle function and that disruption of the plectin 1f can cause the LGMD2 phenotype without any dermatologic component as was previously reported with mutations in constant exons of PLEC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_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#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21109228 http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_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#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_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#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://purl.org/dc/terms/created 2014-10-02T12:39:43+02:00 http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP765384.RAlWQtCipGdexmUR62J1AAOmXfPZzAiS2-2zsdPbXAnjY 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