http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#head
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#assertion
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#provenance
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#assertion
http://rdf.disgenet.org/resource/gda/DGN7ae49280ed3ba43e758e878886282fdd
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4538
http://rdf.disgenet.org/resource/gda/DGN7ae49280ed3ba43e758e878886282fdd
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0917796
http://rdf.disgenet.org/resource/gda/DGN7ae49280ed3ba43e758e878886282fdd
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#provenance
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#assertion
http://purl.org/dc/terms/description
[However, RRF and lactic acidosis are absent in Leber hereditary optic neuropathy (LHON) (one point mutation affecting ND4 gene, two point mutations affecting ND1 gene, and one point mutation affecting the apocytochrome b subunit of complex III), and the condition associated with maternally inherited sensory neuropathy (N), ataxia (A), retinitis pigmentosa (RP), developmental delay, dementia, seizures, and limb weakness (NARP) (point mutation affecting ATPase subunit 6 gene).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/8338207
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/dc/terms/created
2017-10-17T13:14:48+02:00
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP724970.RAHYXNKsLGdL-8iLgUWN1o6PUd6Z1aWst13DAsM29N9YU
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0