http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#head http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#assertion http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#provenance http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#assertion http://rdf.disgenet.org/resource/gda/DGN18511e14d9694fc5bdcc435f155050fe http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6261 http://rdf.disgenet.org/resource/gda/DGN18511e14d9694fc5bdcc435f155050fe http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0151786 http://rdf.disgenet.org/resource/gda/DGN18511e14d9694fc5bdcc435f155050fe http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#provenance http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#assertion http://purl.org/dc/terms/description [Although a clinical overlap between patients with dominant and recessive RYR1 mutations exists, in most cases with recessive mutations the pattern of muscle weakness is remarkably different from that observed in dominant CCD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#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/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17483490 http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#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/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://purl.org/dc/terms/created 2017-10-17T13:16:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916306.RA6rTY4bRmsxtgM34wEJFbJUHjuhc1NjGkdDmLfOSVkqA 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