@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP291532.RA_j6C4K56LAb1kvoGn6z0q9j4NL_eHwaJOh65TvlM2go130_head { this: np:hasAssertion dgn-np:NP291532.RA_j6C4K56LAb1kvoGn6z0q9j4NL_eHwaJOh65TvlM2go130_assertion; np:hasProvenance dgn-np:NP291532.RA_j6C4K56LAb1kvoGn6z0q9j4NL_eHwaJOh65TvlM2go130_provenance; np:hasPublicationInfo dgn-np:NP291532.RA_j6C4K56LAb1kvoGn6z0q9j4NL_eHwaJOh65TvlM2go130_publicationInfo; a np:Nanopublication . dgn-np:NP291532.RA_j6C4K56LAb1kvoGn6z0q9j4NL_eHwaJOh65TvlM2go130_assertion a np:Assertion . dgn-np:NP291532.RA_j6C4K56LAb1kvoGn6z0q9j4NL_eHwaJOh65TvlM2go130_provenance a np:Provenance . dgn-np:NP291532.RA_j6C4K56LAb1kvoGn6z0q9j4NL_eHwaJOh65TvlM2go130_publicationInfo a np:PublicationInfo . } dgn-np:NP291532.RA_j6C4K56LAb1kvoGn6z0q9j4NL_eHwaJOh65TvlM2go130_assertion { miriam-gene:6310 a ncit:C16612 . lld:C0087012 a ncit:C7057 . dgn-gda:DGN28421ba4bce962a0c72dae2faefcb216 sio:SIO_000628 miriam-gene:6310, lld:C0087012; a sio:SIO_001121 . } dgn-np:NP291532.RA_j6C4K56LAb1kvoGn6z0q9j4NL_eHwaJOh65TvlM2go130_provenance { dgn-np:NP291532.RA_j6C4K56LAb1kvoGn6z0q9j4NL_eHwaJOh65TvlM2go130_assertion dcterms:description "[This study aimed to determine if cerebellar ataxia, hypogonadism and chorioretinopathy (AHCR) is associated with mutations in mitochondrial DNA or in genes responsible for spinocerebellar ataxias (SCA1, SCA2, SCA3 and Friedreich's ataxia).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:10935859; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP291532.RA_j6C4K56LAb1kvoGn6z0q9j4NL_eHwaJOh65TvlM2go130_publicationInfo { this: dcterms:created "2016-05-13T12:43:58+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }