@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:NP281537.RAjHKApJrdc_IENml-TuKYyeD-1kW6RwYXcDyG_UXrxtc130_head { this: np:hasAssertion dgn-np:NP281537.RAjHKApJrdc_IENml-TuKYyeD-1kW6RwYXcDyG_UXrxtc130_assertion; np:hasProvenance dgn-np:NP281537.RAjHKApJrdc_IENml-TuKYyeD-1kW6RwYXcDyG_UXrxtc130_provenance; np:hasPublicationInfo dgn-np:NP281537.RAjHKApJrdc_IENml-TuKYyeD-1kW6RwYXcDyG_UXrxtc130_publicationInfo; a np:Nanopublication . dgn-np:NP281537.RAjHKApJrdc_IENml-TuKYyeD-1kW6RwYXcDyG_UXrxtc130_assertion a np:Assertion . dgn-np:NP281537.RAjHKApJrdc_IENml-TuKYyeD-1kW6RwYXcDyG_UXrxtc130_provenance a np:Provenance . dgn-np:NP281537.RAjHKApJrdc_IENml-TuKYyeD-1kW6RwYXcDyG_UXrxtc130_publicationInfo a np:PublicationInfo . } dgn-np:NP281537.RAjHKApJrdc_IENml-TuKYyeD-1kW6RwYXcDyG_UXrxtc130_assertion { miriam-gene:3315 a ncit:C16612 . lld:C0007959 a ncit:C7057 . dgn-gda:DGNcc9e2828c573bdae551c7830b0db451d sio:SIO_000628 miriam-gene:3315, lld:C0007959; a sio:SIO_001121 . } dgn-np:NP281537.RAjHKApJrdc_IENml-TuKYyeD-1kW6RwYXcDyG_UXrxtc130_provenance { dgn-np:NP281537.RAjHKApJrdc_IENml-TuKYyeD-1kW6RwYXcDyG_UXrxtc130_assertion dcterms:description "[Screening for mutations in HSPB1 in 301 individuals with CMT and 115 individuals with distal hereditary motor neuropathies (distal HMNs) confirmed the previously observed mutation and identified four additional missense mutations.]. 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:15122254; 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:NP281537.RAjHKApJrdc_IENml-TuKYyeD-1kW6RwYXcDyG_UXrxtc130_publicationInfo { this: dcterms:created "2014-10-02T12:34:39+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" . }