http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#head http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#assertion http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#provenance http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#assertion http://rdf.disgenet.org/resource/gda/DGN0cd09ef0954d70e0ba97f1e3c3c95462 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6261 http://rdf.disgenet.org/resource/gda/DGN0cd09ef0954d70e0ba97f1e3c3c95462 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162292 http://rdf.disgenet.org/resource/gda/DGN0cd09ef0954d70e0ba97f1e3c3c95462 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#provenance http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#assertion http://purl.org/dc/terms/description [A congenital myopathy featuring ptosis and external ophthalmoplegia, concomitant with the novel histopathological phenotype showing fibres with large, poorly delimited areas of myofibrillar disorganization and internal nuclei, is highly suggestive of an RYR1-related congenital myopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#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/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21062345 http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#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/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://purl.org/dc/terms/created 2017-10-17T13:16:01+02:00 http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP916313.RAsHx5uybG2KfFk05Ri_PEMYg4kgfyBlmn-5T4_rkDyxg 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