http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#head http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#assertion http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#provenance http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#assertion http://rdf.disgenet.org/resource/gda/DGN818417b7c4657d50fe5fe978b97be8dc http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6261 http://rdf.disgenet.org/resource/gda/DGN818417b7c4657d50fe5fe978b97be8dc http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0175709 http://rdf.disgenet.org/resource/gda/DGN818417b7c4657d50fe5fe978b97be8dc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#provenance http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#assertion http://purl.org/dc/terms/description [Single cases with features of CNM have been associated with mutations in the skeletal muscle ryanodine receptor (RYR1) and the hJUMPY (MTMR14) genes.Diagnosis is based on typical histopathological findings on muscle biopsy in combination with suggestive clinical features; muscle magnetic resonance imaging may complement clinical assessment and inform genetic testing in cases with equivocal features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#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/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18817572 http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#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/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://purl.org/dc/terms/created 2017-10-17T13:16:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916315.RAxWHrhdQmMxh448Iyr0sjA60UPTh6DSxzd9MRAuLPJzo 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