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All rights reserved. http://resource.belframework.org/belframework/20131211/knowledge/large_corpus.bel http://purl.org/dc/elements/1.1/title BEL Framework Large Corpus Document http://resource.belframework.org/belframework/20131211/knowledge/large_corpus.bel http://purl.org/pav/authoredBy http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc#_4 http://resource.belframework.org/belframework/20131211/knowledge/large_corpus.bel http://purl.org/pav/version 20131211 http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc#_3 http://www.w3.org/ns/prov#value Specific mis-sense mutations in the human Ant1 cause autosomal dominant Progressive External Ophthalmoplegia (adPEO), mitochondrial myopathy and cardiomyopathy, which are commonly manifested by fractional mitochondrial DNA (mtDNA) deletions. http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc#_3 http://www.w3.org/ns/prov#wasQuotedFrom http://www.ncbi.nlm.nih.gov/pubmed/18809618 http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc#_4 http://www.w3.org/2000/01/rdf-schema#label Selventa http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc#assertion http://www.w3.org/ns/prov#hadPrimarySource http://www.ncbi.nlm.nih.gov/pubmed/18809618 http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://resource.belframework.org/belframework/20131211/knowledge/large_corpus.bel http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc#_3 http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc#pubinfo http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc http://purl.org/dc/terms/created 2014-07-03T14:33:26.413+02:00 http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc http://purl.org/pav/createdBy http://orcid.org/0000-0001-6818-334X http://www.tkuhn.ch/bel2nanopub/RAB24WJG6t7LSn3XUSdTFXk4dVRcP-or-Kv5jIh4D8lNc http://purl.org/pav/createdBy http://orcid.org/0000-0002-1267-0234