http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#head
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#assertion
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#provenance
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#assertion
http://rdf.disgenet.org/resource/gda/DGN84dcbfac3a438c4323738e59606e3cea
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6261
http://rdf.disgenet.org/resource/gda/DGN84dcbfac3a438c4323738e59606e3cea
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0024591
http://rdf.disgenet.org/resource/gda/DGN84dcbfac3a438c4323738e59606e3cea
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#provenance
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#assertion
http://purl.org/dc/terms/description
[The reduction of EC(50) indicates a facilitated calcium release from sarcoplasmic reticulum in the myotubes of the index patient suggesting that the RYR1 Ile2453Thr mutation is pathogenic for the malignant hyperthermia susceptibility and CCD of the two affected individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#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/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/12810058
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#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/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://purl.org/dc/terms/created
2017-10-17T13:16:01+02:00
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP915979.RAT-ORtd8SQBkUHaGx8WudXc7KdXYhjir7hPkywryupbc
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