http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#head http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#assertion http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#provenance http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#assertion http://rdf.disgenet.org/resource/gda/DGNc5983b60399d0842199e8bebff18ad0f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10290 http://rdf.disgenet.org/resource/gda/DGNc5983b60399d0842199e8bebff18ad0f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027868 http://rdf.disgenet.org/resource/gda/DGNc5983b60399d0842199e8bebff18ad0f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#provenance http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#assertion http://purl.org/dc/terms/description [Within this cohort, mutations were found in eight previously known neuromuscular disease genes (CHRND, CHNRG, ECEL1, GBE1, MTM1, MYH3, NEB and RYR1) and four novel neuromuscular disease genes were identified and have been published as separate reports (GPR126, KLHL40, KLHL41 and SPEG).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#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/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26578207 http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#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/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://purl.org/dc/terms/created 2017-10-17T13:17:54+02:00 http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1211853.RACTztenTuwVIwTOhYF_Rzfyx4Rf9yjCNRZJKuGlw_XQM 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