http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_head http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_assertion http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_provenance http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_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/C0878544 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/DGN7cdb94f065f1e91a145bb22402403559 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6389 http://rdf.disgenet.org/resource/gda/DGN7cdb94f065f1e91a145bb22402403559 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0878544 http://rdf.disgenet.org/resource/gda/DGN7cdb94f065f1e91a145bb22402403559 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_provenance http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_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/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_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/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22972948 http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_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/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://purl.org/dc/terms/created 2015-08-25T14:44:35+02:00 http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP688698.RAWd9VGxCyiicjsPKGT084bbMYVENAVkGvVUnywHi3-Vw 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