@prefix dct: .
@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 np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP1578.RALQQR9ZjsUWCMYDF28LLQL4MVn893hqrUNfXDyVarBv4130_head {
this: np:hasAssertion dgn-np:NP1578.RALQQR9ZjsUWCMYDF28LLQL4MVn893hqrUNfXDyVarBv4130_assertion;
np:hasProvenance dgn-np:NP1578.RALQQR9ZjsUWCMYDF28LLQL4MVn893hqrUNfXDyVarBv4130_provenance;
np:hasPublicationInfo dgn-np:NP1578.RALQQR9ZjsUWCMYDF28LLQL4MVn893hqrUNfXDyVarBv4130_publicationInfo;
a np:Nanopublication .
dgn-np:NP1578.RALQQR9ZjsUWCMYDF28LLQL4MVn893hqrUNfXDyVarBv4130_assertion a np:Assertion .
dgn-np:NP1578.RALQQR9ZjsUWCMYDF28LLQL4MVn893hqrUNfXDyVarBv4130_provenance a np:Provenance .
dgn-np:NP1578.RALQQR9ZjsUWCMYDF28LLQL4MVn893hqrUNfXDyVarBv4130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP1578.RALQQR9ZjsUWCMYDF28LLQL4MVn893hqrUNfXDyVarBv4130_assertion {
miriam-gene:5048 a ncit:C16612 .
lld:C0431375 a ncit:C7057 .
dgn-gda:DGNe0936ff921682b00f2194869a001b743 sio:SIO_000628 miriam-gene:5048, lld:C0431375;
a sio:SIO_001122 .
}
dgn-np:NP1578.RALQQR9ZjsUWCMYDF28LLQL4MVn893hqrUNfXDyVarBv4130_provenance {
dgn-np:NP1578.RALQQR9ZjsUWCMYDF28LLQL4MVn893hqrUNfXDyVarBv4130_assertion dct: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_curated;
sio:SIO_000772 miriam-pubmed:11502906;
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:NP1578.RALQQR9ZjsUWCMYDF28LLQL4MVn893hqrUNfXDyVarBv4130_publicationInfo {
this: dct:created "2016-05-13T12:41:50+02:00"^^xsd:dateTime;
dct:rights ;
dct:rightsHolder dgn-void:IBIGroup;
dct: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" .
}