http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#head http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#assertion http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#provenance http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#assertion http://rdf.disgenet.org/resource/gda/DGNc3dc5bb6a3f6e16ff0d517372f9d362f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1103 http://rdf.disgenet.org/resource/gda/DGNc3dc5bb6a3f6e16ff0d517372f9d362f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0220810 http://rdf.disgenet.org/resource/gda/DGNc3dc5bb6a3f6e16ff0d517372f9d362f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#provenance http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#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/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23278578 http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/dc/terms/created 2017-10-17T13:11:33+02:00 http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP212381.RADUYfw407tZtqLiSVPaKa8_6nQKnZLQD4b865DetGCgs http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0