@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:NP9016.RAYAb8lOHNDU6w6Pj-bYCdx5OqC50xhQWbRu4aCJej1pc130_head { this: np:hasAssertion dgn-np:NP9016.RAYAb8lOHNDU6w6Pj-bYCdx5OqC50xhQWbRu4aCJej1pc130_assertion; np:hasProvenance dgn-np:NP9016.RAYAb8lOHNDU6w6Pj-bYCdx5OqC50xhQWbRu4aCJej1pc130_provenance; np:hasPublicationInfo dgn-np:NP9016.RAYAb8lOHNDU6w6Pj-bYCdx5OqC50xhQWbRu4aCJej1pc130_publicationInfo; a np:Nanopublication . dgn-np:NP9016.RAYAb8lOHNDU6w6Pj-bYCdx5OqC50xhQWbRu4aCJej1pc130_assertion a np:Assertion . dgn-np:NP9016.RAYAb8lOHNDU6w6Pj-bYCdx5OqC50xhQWbRu4aCJej1pc130_provenance a np:Provenance . dgn-np:NP9016.RAYAb8lOHNDU6w6Pj-bYCdx5OqC50xhQWbRu4aCJej1pc130_publicationInfo a np:PublicationInfo . } dgn-np:NP9016.RAYAb8lOHNDU6w6Pj-bYCdx5OqC50xhQWbRu4aCJej1pc130_assertion { miriam-gene:2705 a ncit:C16612 . lld:C0393808 a ncit:C7057 . dgn-gda:DGN522b900978ddc58967ee2d4b4939a8e8 sio:SIO_000628 miriam-gene:2705, lld:C0393808; a sio:SIO_001122 . } dgn-np:NP9016.RAYAb8lOHNDU6w6Pj-bYCdx5OqC50xhQWbRu4aCJej1pc130_provenance { dgn-np:NP9016.RAYAb8lOHNDU6w6Pj-bYCdx5OqC50xhQWbRu4aCJej1pc130_assertion dcterms:description "[Further, because of an overlap in electrophysiologic data between CMT2 and CMTX female patients, we screened 6 of 11 CMT2 families compatible with dominant X-linkage for mutations in the connexin 32 (Cx32) gene at Xq13.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:8628473; prov:wasDerivedFrom dgn-void:uniprot-2016; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date . } dgn-np:NP9016.RAYAb8lOHNDU6w6Pj-bYCdx5OqC50xhQWbRu4aCJej1pc130_publicationInfo { this: dcterms:created "2016-05-13T12:41:53+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }