http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_head http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_assertion http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_provenance http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_assertion http://identifiers.org/ncbigene/43 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/C0751882 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/DGNedbe6cd14cae7d58f6f2873f5a9bd099 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/43 http://rdf.disgenet.org/resource/gda/DGNedbe6cd14cae7d58f6f2873f5a9bd099 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0751882 http://rdf.disgenet.org/resource/gda/DGNedbe6cd14cae7d58f6f2873f5a9bd099 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_provenance http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_assertion http://purl.org/dc/terms/description [A synaptic CMS is caused by mutations in the collagenic tail subunit (ColQ) of the endplate species of acetylcholinesterase that prevent the tail subunit from associating with catalytic subunits or from becoming inserted into the synaptic basal lamina.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_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/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14592871 http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_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/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://purl.org/dc/terms/created 2016-05-13T12:44:55+02:00 http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP418874.RAZ6fxFP7TbZs0oGnLbmJlH-FKFkuZNU0LvXV760TmO6U 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