@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:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_head { this: np:hasAssertion dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_assertion; np:hasProvenance dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_provenance; np:hasPublicationInfo dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_publicationInfo; a np:Nanopublication . dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_assertion a np:Assertion . dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_provenance a np:Provenance . dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_assertion { miriam-gene:54332 a ncit:C16612 . lld:C0007959 a ncit:C7057 . dgn-gda:DGN1680aadb2594da1b6a3b6af24dd748a0 sio:SIO_000628 miriam-gene:54332, lld:C0007959; a sio:SIO_001121 . } dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_provenance { dgn-np:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_assertion dcterms:description "[These Spanish families share in the severe CMT clinical phenotype with some Tunisian families who also presented mutations in the GDAP1 gene and to which the CMT4A locus was originally assigned.]. 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:12821518; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP227347.RAaYbeeuO0vvxs7Wjv5AUPEd_FL7iwDEY7jYIDhqVGAlQ130_publicationInfo { this: dcterms:created "2014-10-02T12:34:06+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }