http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#head
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#assertion
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#provenance
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#assertion
http://rdf.disgenet.org/resource/gda/DGN9ac816a796a84c73b068df6e40478a3e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1355
http://rdf.disgenet.org/resource/gda/DGN9ac816a796a84c73b068df6e40478a3e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C2748884
http://rdf.disgenet.org/resource/gda/DGN9ac816a796a84c73b068df6e40478a3e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#provenance
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#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/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#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/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26940873
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#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/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://purl.org/dc/terms/created
2017-10-17T13:11:42+02:00
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP235964.RAJ6skfjIUBbbQAv366j2-wJJDvbgD26bEx2DQuIvoW48
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