@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:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_head { this: np:hasAssertion dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_assertion; np:hasProvenance dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_provenance; np:hasPublicationInfo dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_publicationInfo; a np:Nanopublication . dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_assertion a np:Assertion . dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_provenance a np:Provenance . dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_publicationInfo a np:PublicationInfo . } dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_assertion { miriam-gene:4204 a ncit:C16612 . lld:C0035372 a ncit:C7057 . dgn-gda:DGN8499834ce874063d9ffe53d445b6b4a4 sio:SIO_000628 miriam-gene:4204, lld:C0035372; a sio:SIO_001121 . } dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_provenance { dgn-np:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_assertion dcterms:description "[To avoid the missing of few small deletions in RTT patients using classical mutation screening approaches, we suggest that screening of the mutations in the MECP2 gene in RTT girls should include at least a large PCR to amplify exon 4 entirely.]. 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:11524737; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP328395.RArDE7TPAJcUXK6Dj4HAjH_m4axt5ur5rt3CJD4ZeJmrA130_publicationInfo { this: dcterms:created "2016-05-13T12:44:14+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" . }