http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_head http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_assertion http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_provenance http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_assertion http://identifiers.org/ncbigene/6389 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/C0026827 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/resource/gda/DGN5962a492e120e0a13204c0be19af9d66 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6389 http://rdf.disgenet.org/resource/gda/DGN5962a492e120e0a13204c0be19af9d66 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026827 http://rdf.disgenet.org/resource/gda/DGN5962a492e120e0a13204c0be19af9d66 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_provenance http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_assertion http://purl.org/dc/terms/description [Here, we report the clinical and molecular investigations of two patients with histochemical and biochemical evidence of a severe, isolated complex II deficiency due to novel SDH gene mutations; the first patient presented with cardiomyopathy and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous p.Asp48Val SDHB mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22972948 http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/dc/terms/created 2015-08-25T14:44:35+02:00 http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP688660.RAJVvZ3-Q_l5tP7jdevTRIKSDvTJGIXnnq3VSA5EgoKHU http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0