@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:NP605845.RAlBqnge0bWzEVhuaMj2Vlv6gkh1gQvQ_STZJTic8SPUI130_head { this: np:hasAssertion dgn-np:NP605845.RAlBqnge0bWzEVhuaMj2Vlv6gkh1gQvQ_STZJTic8SPUI130_assertion; np:hasProvenance dgn-np:NP605845.RAlBqnge0bWzEVhuaMj2Vlv6gkh1gQvQ_STZJTic8SPUI130_provenance; np:hasPublicationInfo dgn-np:NP605845.RAlBqnge0bWzEVhuaMj2Vlv6gkh1gQvQ_STZJTic8SPUI130_publicationInfo; a np:Nanopublication . dgn-np:NP605845.RAlBqnge0bWzEVhuaMj2Vlv6gkh1gQvQ_STZJTic8SPUI130_assertion a np:Assertion . dgn-np:NP605845.RAlBqnge0bWzEVhuaMj2Vlv6gkh1gQvQ_STZJTic8SPUI130_provenance a np:Provenance . dgn-np:NP605845.RAlBqnge0bWzEVhuaMj2Vlv6gkh1gQvQ_STZJTic8SPUI130_publicationInfo a np:PublicationInfo . } dgn-np:NP605845.RAlBqnge0bWzEVhuaMj2Vlv6gkh1gQvQ_STZJTic8SPUI130_assertion { miriam-gene:5048 a ncit:C16612 . lld:C0000768 a ncit:C7057 . dgn-gda:DGNc23eb73f526cfe9550ef4dd2651eaba2 sio:SIO_000628 miriam-gene:5048, lld:C0000768; a sio:SIO_001121 . } dgn-np:NP605845.RAlBqnge0bWzEVhuaMj2Vlv6gkh1gQvQ_STZJTic8SPUI130_provenance { dgn-np:NP605845.RAlBqnge0bWzEVhuaMj2Vlv6gkh1gQvQ_STZJTic8SPUI130_assertion dcterms:description "[The authors suggest that the few patients found thus far with missense mutations of LIS1 results from an underascertainment of patients with more subtle malformations and that abnormalities of the LIS1 gene may account for a greater spectrum of neurologic problems in childhood than has previously been appreciated.]. 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:11502906; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP605845.RAlBqnge0bWzEVhuaMj2Vlv6gkh1gQvQ_STZJTic8SPUI130_publicationInfo { this: dcterms:created "2015-08-25T14:43:42+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }