@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:NP910554.RAF0wGczvItmt1hiFrcCHXbhuJzOvEiNIRH0kVe9KEcTM130_head { this: np:hasAssertion dgn-np:NP910554.RAF0wGczvItmt1hiFrcCHXbhuJzOvEiNIRH0kVe9KEcTM130_assertion; np:hasProvenance dgn-np:NP910554.RAF0wGczvItmt1hiFrcCHXbhuJzOvEiNIRH0kVe9KEcTM130_provenance; np:hasPublicationInfo dgn-np:NP910554.RAF0wGczvItmt1hiFrcCHXbhuJzOvEiNIRH0kVe9KEcTM130_publicationInfo; a np:Nanopublication . dgn-np:NP910554.RAF0wGczvItmt1hiFrcCHXbhuJzOvEiNIRH0kVe9KEcTM130_assertion a np:Assertion . dgn-np:NP910554.RAF0wGczvItmt1hiFrcCHXbhuJzOvEiNIRH0kVe9KEcTM130_provenance a np:Provenance . dgn-np:NP910554.RAF0wGczvItmt1hiFrcCHXbhuJzOvEiNIRH0kVe9KEcTM130_publicationInfo a np:PublicationInfo . } dgn-np:NP910554.RAF0wGczvItmt1hiFrcCHXbhuJzOvEiNIRH0kVe9KEcTM130_assertion { miriam-gene:54332 a ncit:C16612 . lld:C0007959 a ncit:C7057 . dgn-gda:DGN753ee9040fa9761ad3f8fdb9a771148b sio:SIO_000628 miriam-gene:54332, lld:C0007959; a sio:SIO_001121 . } dgn-np:NP910554.RAF0wGczvItmt1hiFrcCHXbhuJzOvEiNIRH0kVe9KEcTM130_provenance { dgn-np:NP910554.RAF0wGczvItmt1hiFrcCHXbhuJzOvEiNIRH0kVe9KEcTM130_assertion dcterms:description "[Recent clinical, morphological and molecular investigations of CMT families with autosomal recessive inheritance allowed the identification of many genes such as GDAP1, MTMR2, SBF2, NDRG1, EGR2, SH3TC2, PRX, FGD4, and FIG4, implicated in demyelinating forms (ARCMT1 or CMT4), and LMNA, MED25, HINT1, GDAP1, LRSAM1, NEFL, HSPB1 and MFN2 in axonal forms (ARCMT2).]. 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:23781959; 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:NP910554.RAF0wGczvItmt1hiFrcCHXbhuJzOvEiNIRH0kVe9KEcTM130_publicationInfo { this: dcterms:created "2015-08-25T14:46:55+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" . }