@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:NP821914.RArvp-4anNHwFwGFK-lgkUattWBezHPCcZzVCvm9LxNbs130_head { this: np:hasAssertion dgn-np:NP821914.RArvp-4anNHwFwGFK-lgkUattWBezHPCcZzVCvm9LxNbs130_assertion; np:hasProvenance dgn-np:NP821914.RArvp-4anNHwFwGFK-lgkUattWBezHPCcZzVCvm9LxNbs130_provenance; np:hasPublicationInfo dgn-np:NP821914.RArvp-4anNHwFwGFK-lgkUattWBezHPCcZzVCvm9LxNbs130_publicationInfo; a np:Nanopublication . dgn-np:NP821914.RArvp-4anNHwFwGFK-lgkUattWBezHPCcZzVCvm9LxNbs130_assertion a np:Assertion . dgn-np:NP821914.RArvp-4anNHwFwGFK-lgkUattWBezHPCcZzVCvm9LxNbs130_provenance a np:Provenance . dgn-np:NP821914.RArvp-4anNHwFwGFK-lgkUattWBezHPCcZzVCvm9LxNbs130_publicationInfo a np:PublicationInfo . } dgn-np:NP821914.RArvp-4anNHwFwGFK-lgkUattWBezHPCcZzVCvm9LxNbs130_assertion { miriam-gene:26580 a ncit:C16612 . lld:C0026838 a ncit:C7057 . dgn-gda:DGNb26a35dc5864c899384308059c5b6171 sio:SIO_000628 miriam-gene:26580, lld:C0026838; a sio:SIO_001121 . } dgn-np:NP821914.RArvp-4anNHwFwGFK-lgkUattWBezHPCcZzVCvm9LxNbs130_provenance { dgn-np:NP821914.RArvp-4anNHwFwGFK-lgkUattWBezHPCcZzVCvm9LxNbs130_assertion dcterms:description "[Interestingly, both families show a clinical phenotype different from classical Silver syndrome, and in some patients the phenotype is also different from distal HMN V. Patients in the first family had marked spasticity in the lower limbs and very striking distal amyotrophy that always started in the legs.]. 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:15242882; 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:NP821914.RArvp-4anNHwFwGFK-lgkUattWBezHPCcZzVCvm9LxNbs130_publicationInfo { this: dcterms:created "2014-10-02T12:40:23+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" . }