http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_head http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion http://identifiers.org/ncbigene/55750 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0026848 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGNba458d162873bc650ee960d5393168d9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55750 http://rdf.disgenet.org/gene-disease-association.ttl#DGNba458d162873bc650ee960d5393168d9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026848 http://rdf.disgenet.org/gene-disease-association.ttl#DGNba458d162873bc650ee960d5393168d9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion http://purl.org/dc/terms/description [Exome sequencing of an individual with congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, and lactic acidosis, all typical symptoms of Sengers syndrome, discovered two nonsense mutations in the gene encoding mitochondrial acylglycerol kinase (AGK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22284826 http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/dc/terms/created 2014-10-02T12:39:29+02:00 http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP741375.RAfV7M1A7ZQxIXPuEc_p6_ACQQ7eKwLlwR5izWTbfdBtc http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0