@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:NP327523.RAZui5ankC8wiVBt0mWEAwxYRHJIN2YqAyYEhJARRonTA130_head { this: np:hasAssertion dgn-np:NP327523.RAZui5ankC8wiVBt0mWEAwxYRHJIN2YqAyYEhJARRonTA130_assertion; np:hasProvenance dgn-np:NP327523.RAZui5ankC8wiVBt0mWEAwxYRHJIN2YqAyYEhJARRonTA130_provenance; np:hasPublicationInfo dgn-np:NP327523.RAZui5ankC8wiVBt0mWEAwxYRHJIN2YqAyYEhJARRonTA130_publicationInfo; a np:Nanopublication . dgn-np:NP327523.RAZui5ankC8wiVBt0mWEAwxYRHJIN2YqAyYEhJARRonTA130_assertion a np:Assertion . dgn-np:NP327523.RAZui5ankC8wiVBt0mWEAwxYRHJIN2YqAyYEhJARRonTA130_provenance a np:Provenance . dgn-np:NP327523.RAZui5ankC8wiVBt0mWEAwxYRHJIN2YqAyYEhJARRonTA130_publicationInfo a np:PublicationInfo . } dgn-np:NP327523.RAZui5ankC8wiVBt0mWEAwxYRHJIN2YqAyYEhJARRonTA130_assertion { miriam-gene:3342 a ncit:C16612 . lld:C0424605 a ncit:C7057 . dgn-gda:DGN7d9c68da9633b5e23fff672b73727851 sio:SIO_000628 miriam-gene:3342, lld:C0424605; a sio:SIO_001121 . } dgn-np:NP327523.RAZui5ankC8wiVBt0mWEAwxYRHJIN2YqAyYEhJARRonTA130_provenance { dgn-np:NP327523.RAZui5ankC8wiVBt0mWEAwxYRHJIN2YqAyYEhJARRonTA130_assertion dcterms:description "[Given the familial and therapeutic implications for accurate diagnosis of DMD mutations, this case raises the possible need for screening boys with global developmental delay/intellectual disability even in the absence of any overt muscle weakness and further shows the utility of comparative genomic hybridization (CGH) analysis in the evaluation of patients with nonsyndromic mental retardation.]. 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:19073314; 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:NP327523.RAZui5ankC8wiVBt0mWEAwxYRHJIN2YqAyYEhJARRonTA130_publicationInfo { this: dcterms:created "2014-10-02T12:35:11+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" . }