http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#head http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#assertion http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#provenance http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#assertion http://rdf.disgenet.org/resource/gda/DGN62a26453d3f88732786b8462a6a1ca95 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6261 http://rdf.disgenet.org/resource/gda/DGN62a26453d3f88732786b8462a6a1ca95 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0027868 http://rdf.disgenet.org/resource/gda/DGN62a26453d3f88732786b8462a6a1ca95 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#provenance http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#assertion http://purl.org/dc/terms/description [At least three phenotypes associated with more than 100 RYR1 mutations have been identified; in order to elucidate possible pathophysiological mechanisms of RYR1 mutations linked to neuromuscular disorders, it is essential to define the mutation class by studying the functional properties of channels harbouring clinically relevant amino acid substitutions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#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/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19027160 http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#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/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://purl.org/dc/terms/created 2017-10-17T13:16:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916258.RA1z13fBpFboV7V4hh_6_uBFK5tTOp3DUhWBtFBIMj_XM 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