http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_head http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_assertion http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_assertion http://identifiers.org/ncbigene/57190 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/C0029089 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/gene-disease-association.ttl#DGN872129c95ccfdfc464bd5de725bf3460 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/57190 http://rdf.disgenet.org/gene-disease-association.ttl#DGN872129c95ccfdfc464bd5de725bf3460 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0029089 http://rdf.disgenet.org/gene-disease-association.ttl#DGN872129c95ccfdfc464bd5de725bf3460 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_provenance http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_assertion http://purl.org/dc/terms/description [From a clinical point of view, the condition is widely heterogeneous and at least four phenotypes have been identified; genetic analysis has revealed that most patients with the classical form of multiminicore characterized by rigidity of the spine, early onset and respiratory impairment harbour recessive mutations in the SEPN1 gene, whereas the majority of patients belonging to the other categories, including patients with ophthalmoplegia or patients with a phenotype similar to central core disease, carry recessive mutations in the RYR1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17365175 http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/dc/terms/created 2014-10-02T12:40:39+02:00 http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP849621.RAjaOdvOSYJFIdvJ9rRC8Zt3kM0ZriH7qtHWuN1crCtWg http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0