http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_head http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_assertion http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_assertion http://identifiers.org/ncbigene/4508 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/C0270921 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#DGN0844ea23eb8f1341c04e255d3da868e5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4508 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0844ea23eb8f1341c04e255d3da868e5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0270921 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0844ea23eb8f1341c04e255d3da868e5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_provenance http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_assertion http://purl.org/dc/terms/description [While it is not definite that the characteristics of the neuropathy would help in directing genetic testing without the requirement for invasive skin, muscle or liver biopsies, there appears to be some evidence for this hypothesis in Leigh syndrome, in which nuclear SURF1 mutations cause a demyelinating neuropathy and mitochondrial DNA MTATP6 mutations cause an axonal neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_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#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22435634 http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_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#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_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#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://purl.org/dc/terms/created 2014-10-02T12:40:49+02:00 http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP865202.RAg2Qy5IRlhz_Mg44bvZqg9SposFXrH-qanXTyijnONv0 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