@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:NP864495.RAM7lOb2fLu-UUOXauERnXAVLzDO2HfkNGr-oorAw068E130_head { this: np:hasAssertion dgn-np:NP864495.RAM7lOb2fLu-UUOXauERnXAVLzDO2HfkNGr-oorAw068E130_assertion; np:hasProvenance dgn-np:NP864495.RAM7lOb2fLu-UUOXauERnXAVLzDO2HfkNGr-oorAw068E130_provenance; np:hasPublicationInfo dgn-np:NP864495.RAM7lOb2fLu-UUOXauERnXAVLzDO2HfkNGr-oorAw068E130_publicationInfo; a np:Nanopublication . dgn-np:NP864495.RAM7lOb2fLu-UUOXauERnXAVLzDO2HfkNGr-oorAw068E130_assertion a np:Assertion . dgn-np:NP864495.RAM7lOb2fLu-UUOXauERnXAVLzDO2HfkNGr-oorAw068E130_provenance a np:Provenance . dgn-np:NP864495.RAM7lOb2fLu-UUOXauERnXAVLzDO2HfkNGr-oorAw068E130_publicationInfo a np:PublicationInfo . } dgn-np:NP864495.RAM7lOb2fLu-UUOXauERnXAVLzDO2HfkNGr-oorAw068E130_assertion { miriam-gene:7412 a ncit:C16612 . lld:C2931876 a ncit:C7057 . dgn-gda:DGNbb9279aac35a4b576d4123dfb5e9f39c sio:SIO_000628 miriam-gene:7412, lld:C2931876; a sio:SIO_001121 . } dgn-np:NP864495.RAM7lOb2fLu-UUOXauERnXAVLzDO2HfkNGr-oorAw068E130_provenance { dgn-np:NP864495.RAM7lOb2fLu-UUOXauERnXAVLzDO2HfkNGr-oorAw068E130_assertion dcterms:description "[Although the disease phenotypes of this patient may well be independent, the alternative explanation that L1CAM mutations may contribute to both phenotypes cannot be excluded in view of an earlier report on another patient with both X linked hydrocephalus and HSCR.]. 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:9279760; 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:NP864495.RAM7lOb2fLu-UUOXauERnXAVLzDO2HfkNGr-oorAw068E130_publicationInfo { this: dcterms:created "2014-10-02T12:40:48+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" . }