@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:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_head { this: np:hasAssertion dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_assertion; np:hasProvenance dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_provenance; np:hasPublicationInfo dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_publicationInfo; a np:Nanopublication . dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_assertion a np:Assertion . dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_provenance a np:Provenance . dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_publicationInfo a np:PublicationInfo . } dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_assertion { miriam-gene:10743 a ncit:C16612 . lld:C0795864 a ncit:C7057 . dgn-gda:DGNfa37ad6cf83012938fdb658373bcde2b sio:SIO_000628 miriam-gene:10743, lld:C0795864; a sio:SIO_001121 . } dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_provenance { dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_assertion dcterms:description "[Our data show that genetic background or modifier genes also significantly contribute to the severity of the phenotypes in SMS mouse models, mirroring the phenotypic variation observed in humans with Smith-Magenis syndrome and support the need for investigation of modifier loci for both single gene and complex genetic syndromes.]. 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:19116176; prov:wasDerivedFrom dgn-void:ctd_human-20150221; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:ctd_human-20150221 pav:importedOn "2015-02-21"^^xsd:date . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . } dgn-np:NP28146.RAwDt7vtAw0JnGy8Wtiq4tZe-xTOdH2XClswGI_ig2vqo130_publicationInfo { this: dcterms:created "2015-08-25T14:37:56+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" . }