http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#head http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#assertion http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#provenance http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#assertion http://rdf.disgenet.org/resource/gda/DGN0bb7bc5b4bccd36ed015138f9d175838 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6261 http://rdf.disgenet.org/resource/gda/DGN0bb7bc5b4bccd36ed015138f9d175838 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0008928 http://rdf.disgenet.org/resource/gda/DGN0bb7bc5b4bccd36ed015138f9d175838 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#provenance http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#assertion http://purl.org/dc/terms/description [CCD and MHS are allelic conditions both due to (predominantly dominant) mutations in the skeletal muscle ryanodine receptor (RYR1) gene, encoding the principal skeletal muscle sarcoplasmic reticulum calcium release channel (RyR1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#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/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17504518 http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#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/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://purl.org/dc/terms/created 2017-10-17T13:16:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916347.RARqSB6x_tRrXIV4D6Ao_Ox31hwFzE3_O3v7oqqtXwIYs 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