http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_head http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_assertion http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_provenance http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_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/C0220810 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/DGN334f402c8b0ebc044bb9fd93a85f81b8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5339 http://rdf.disgenet.org/resource/gda/DGN334f402c8b0ebc044bb9fd93a85f81b8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0220810 http://rdf.disgenet.org/resource/gda/DGN334f402c8b0ebc044bb9fd93a85f81b8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_provenance http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_assertion http://purl.org/dc/terms/description [This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_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/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23278578 http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_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/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://purl.org/dc/terms/created 2016-05-13T12:49:37+02:00 http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1039778.RAswCbUQo1e4Fc8Mkc_rjCKBAUlAQ91WjPydizMF8vYlw 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