http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#head http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#assertion http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#provenance http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#assertion http://rdf.disgenet.org/resource/gda/DGN86d8139bf8e1f8f7ca24c7cb455d3a06 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/51422 http://rdf.disgenet.org/resource/gda/DGN86d8139bf8e1f8f7ca24c7cb455d3a06 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0149721 http://rdf.disgenet.org/resource/gda/DGN86d8139bf8e1f8f7ca24c7cb455d3a06 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#provenance http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#assertion http://purl.org/dc/terms/description [Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#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/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15673802 http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#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/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://purl.org/dc/terms/created 2017-10-17T13:18:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1311598.RAiQvFWjvZElfQDseJ8xRUakyhg-YreW-Mthy1ij6R6FM 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