http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#head
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#assertion
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#provenance
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#assertion
http://rdf.disgenet.org/resource/gda/DGN0b12215b341fc61eca9fa0eb09873cb6
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1355
http://rdf.disgenet.org/resource/gda/DGN0b12215b341fc61eca9fa0eb09873cb6
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0027765
http://rdf.disgenet.org/resource/gda/DGN0b12215b341fc61eca9fa0eb09873cb6
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#provenance
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#assertion
http://purl.org/dc/terms/description
[Mutations of COX15 causing single amino acid conversions associated with fatal infantile hypertrophic cardiomyopathy and the neurological disorder Leigh syndrome result in impaired stability (S344P) or catalytic function (R217W), and the latter mutation affects oligomeric properties of the enzyme.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#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/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26940873
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#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/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://purl.org/dc/terms/created
2017-10-17T13:11:42+02:00
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP235973.RAhT95YEZBjzAWzcpxk3z4nXIlUBEXchta0PhWPtVexmk
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