@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:NP632357.RAvLVlmeNyz2L2Dk1buycYH474KsnPYoFbaZ47jFl-5ZQ130_head { this: np:hasAssertion dgn-np:NP632357.RAvLVlmeNyz2L2Dk1buycYH474KsnPYoFbaZ47jFl-5ZQ130_assertion; np:hasProvenance dgn-np:NP632357.RAvLVlmeNyz2L2Dk1buycYH474KsnPYoFbaZ47jFl-5ZQ130_provenance; np:hasPublicationInfo dgn-np:NP632357.RAvLVlmeNyz2L2Dk1buycYH474KsnPYoFbaZ47jFl-5ZQ130_publicationInfo; a np:Nanopublication . dgn-np:NP632357.RAvLVlmeNyz2L2Dk1buycYH474KsnPYoFbaZ47jFl-5ZQ130_assertion a np:Assertion . dgn-np:NP632357.RAvLVlmeNyz2L2Dk1buycYH474KsnPYoFbaZ47jFl-5ZQ130_provenance a np:Provenance . dgn-np:NP632357.RAvLVlmeNyz2L2Dk1buycYH474KsnPYoFbaZ47jFl-5ZQ130_publicationInfo a np:PublicationInfo . } dgn-np:NP632357.RAvLVlmeNyz2L2Dk1buycYH474KsnPYoFbaZ47jFl-5ZQ130_assertion { miriam-gene:5376 a ncit:C16612 . lld:C0026846 a ncit:C7057 . dgn-gda:DGN7e396d682bb9b5b884448a7e275a1062 sio:SIO_000628 miriam-gene:5376, lld:C0026846; a sio:SIO_001121 . } dgn-np:NP632357.RAvLVlmeNyz2L2Dk1buycYH474KsnPYoFbaZ47jFl-5ZQ130_provenance { dgn-np:NP632357.RAvLVlmeNyz2L2Dk1buycYH474KsnPYoFbaZ47jFl-5ZQ130_assertion dcterms:description "[Clinical features of CMT1A include progressive distal muscle atrophy and weakness, foot and hand deformities, gait abnormalities, absent reflexes, and the completely penetrant electrophysiologic phenotype of symmetric reductions in motor nerve conduction velocities (NCVs).]. 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:8655146; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP632357.RAvLVlmeNyz2L2Dk1buycYH474KsnPYoFbaZ47jFl-5ZQ130_publicationInfo { this: dcterms:created "2015-08-25T14:43:58+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }